Protein Bioinformatics
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- 2024
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
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- Contribution to journal › Article
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Mark
A 16 × 16 Patch-Based Deep Learning Model for the Early Prognosis of Monkeypox from Skin Color Images
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- Contribution to journal › Article
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Mark
Multiclass AI-Generated Deepfake Face Detection Using Patch-Wise Deep Learning Model
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- Contribution to journal › Article
- 2023
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Mark
Chem2Side : A Deep Learning Model with Ensemble Augmentation (Conventional + Pix2Pix) for COVID-19 Drug Side-Effects Prediction from Chemical Images
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- Contribution to journal › Article
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Mark
VariBench, new variation benchmark categories and data sets
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- Contribution to journal › Article
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Mark
A Novel Predictor for the Analysis and Prediction of Enhancers and Their Strength via Multi-View Features and Deep Forest
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- Contribution to journal › Article
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Mark
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
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- Contribution to journal › Article
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Mark
PON-Fold : Prediction of Substitutions Affecting Protein Folding Rate
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- Contribution to journal › Article
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Mark
Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics
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- Contribution to journal › Scientific review
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Mark
Systematic errors in annotations of truncations, loss-of-function and synonymous variants
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- Contribution to journal › Article
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Mark
Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance
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- Contribution to journal › Article
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Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2022
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Mark
Individual Genetic Heterogeneity
(
- Contribution to journal › Scientific review
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Mark
Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties
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- Contribution to journal › Article
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Mark
When a Synonymous Variant Is Nonsynonymous
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- Contribution to journal › Article
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Mark
Generic model for biological regulation
(
- Contribution to journal › Article
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Mark
PON-All : Amino Acid Substitution Tolerance Predictor for All Organisms
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- Contribution to journal › Article
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Mark
ProTstab2 for Prediction of Protein Thermal Stabilities
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- Contribution to journal › Article
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Mark
Circulating plasma microRNAs in systemic sclerosis-associated pulmonary arterial hypertension
(
- Contribution to journal › Article
- 2021
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Mark
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinib
(
- Contribution to journal › Article
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Mark
Structure-Function Relationships of Covalent and Non-Covalent BTK Inhibitors
(
- Contribution to journal › Scientific review
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Mark
Systematics for types and effects of RNA variations
(
- Contribution to journal › Article
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Mark
Functional effects of protein variants
(
- Contribution to journal › Article
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Mark
PON-Sol2 : Prediction of effects of variants on protein solubility
(
- Contribution to journal › Article
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Mark
Measuring and interpreting pervasive heterogeneity, poikilosis
(
- Contribution to journal › Article
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Mark
TNF-α and α-synuclein fibrils differently regulate human astrocyte immune reactivity and impair mitochondrial respiration
(
- Contribution to journal › Article
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Mark
Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update)
(
- Contribution to journal › Article
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Mark
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology
(
- Contribution to journal › Article
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Mark
Applications of artificial intelligence, machine learning, big data and the internet of things to the COVID-19 pandemic : A scientometric review using text mining
(
- Contribution to journal › Scientific review
- 2020
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Mark
Variation benchmark datasets : update, criteria, quality and applications
(
- Contribution to journal › Article
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Mark
S100A6 is a critical regulator of hematopoietic stem cells.
2020) In Leukemia(
- Contribution to journal › Article
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Mark
Poikilosis - Pervasive biological variation
(
- Contribution to journal › Article
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Mark
Strategy for Disease Diagnosis, Progression Prediction, Risk Group Stratification and Treatment—Case of COVID-19
(
- Contribution to journal › Article
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Mark
Problems in variation interpretation guidelines and in their implementation in computational tools
(
- Contribution to journal › Article
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Mark
Guidelines for systematic reporting of sequence alignments
(
- Contribution to journal › Article
- 2019
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Mark
How good are pathogenicity predictors in detecting benign variants?
(
- Contribution to journal › Article
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Mark
Benchmarking subcellular localization and variant tolerance predictors on membrane proteins
(
- Contribution to journal › Article
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Mark
ProTstab - Predictor for cellular protein stability
(
- Contribution to journal › Article
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Mark
Checklist for gene/disease-specific variation database curators to enable ethical data management
(
- Contribution to journal › Article
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Mark
FGF family members differentially regulate maturation and proliferation of stem cell-derived astrocytes
(
- Contribution to journal › Article
- 2018
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Mark
Pon-tstab : Protein variant stability predictor. importance of training data quality
(
- Contribution to journal › Article
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Mark
Mu transpososome activity-profiling yields hyperactive MuA variants for highly efficient genetic and genome engineering
(
- Contribution to journal › Article
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Mark
Systematics for types and effects of DNA variations
(
- Contribution to journal › Scientific review
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Mark
Pan-cancer analysis of neoepitopes
(
- Contribution to journal › Article
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Mark
Representativeness of variation benchmark datasets
(
- Contribution to journal › Article
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Mark
NDDVD : an integrated and manually curated Neurodegenerative Diseases Variation Database
(
- Contribution to journal › Article
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Mark
Simulation of the dynamics of primary immunodeficiencies in B cells
(
- Contribution to journal › Article
- 2017
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Mark
How to Define Pathogenicity, Health, and Disease?
(
- Contribution to journal › Article
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Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article
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Mark
Tools and annotations for variation
2017)(
- Thesis › Doctoral thesis (compilation)
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Mark
Computational analysis on the effects of variations in T and B cells. Primary immunodeficiencies and cancer neoepitopes
2017)(
- Thesis › Doctoral thesis (compilation)
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Mark
Targeting Neuroinflammation to Treat Alzheimer’s Disease
(
- Contribution to journal › Scientific review
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Mark
Direct evidence for a polygenic etiology in familial multiple myeloma
(
- Contribution to journal › Article
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Mark
PON-SC - program for identifying steric clashes caused by amino acid substitutions
(
- Contribution to journal › Article
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Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
(
- Contribution to journal › Article
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Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
(
- Contribution to journal › Article
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Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
(
- Contribution to journal › Article
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Mark
Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
(
- Contribution to journal › Article
- 2016
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Mark
VariOtator, A Software Tool for Variation Annotation with the Variation Ontology.
(
- Contribution to journal › Article
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Mark
PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.
(
- Contribution to journal › Article
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Mark
Tools and pipelines for interpreting the impacts of genetic variants
2016)(
- Thesis › Doctoral thesis (compilation)
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Mark
Establishment of an international database for genetic variants in esophageal cancer
(
- Contribution to journal › Article
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Mark
Variation Interpretation Predictors : Principles, Types, Performance, and Choice
(
- Contribution to journal › Article
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Mark
PON-Sol : Prediction of effects of amino acid substitutions on protein solubility
(
- Contribution to journal › Article
- 2015
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Mark
Finding Our Way through Phenotypes.
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- Contribution to journal › Article
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Mark
Harmful somatic amino acid substitutions affect key pathways in cancers.
(
- Contribution to journal › Article
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Mark
PON-P2: Prediction Method for Fast and Reliable Identification of Harmful Variants.
(
- Contribution to journal › Article
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Mark
Standard development at the Human Variome Project.
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- Contribution to journal › Article
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Mark
Muddled genetic terms miss and mess the message.
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- Contribution to journal › Debate/Note/Editorial
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Mark
No more hidden solutions in bioinformatics.
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- Contribution to journal › Debate/Note/Editorial
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Mark
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
(
- Contribution to journal › Article
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Mark
Types and effects of protein variations.
(
- Contribution to journal › Article
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Mark
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
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- Contribution to journal › Article
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Mark
Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.
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- Contribution to journal › Article
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Mark
The importance of proper testing of predictor performance.
(
- Contribution to journal › Article
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Mark
Genetic Variation in Bruton Tyrosine Kinase
2015) p.75-85(
- Chapter in Book/Report/Conference proceeding › Book chapter
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Mark
Varisnp, A Benchmark Database For Variations from dbSNP.
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- Contribution to journal › Article
- 2014
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Mark
Variation ontology: annotator guide.
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- Contribution to journal › Article
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Mark
Clustering of gene ontology terms in genomes.
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- Contribution to journal › Article
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Mark
Identification of core T cell network based on immunome interactome.
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- Contribution to journal › Article
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Mark
Majority Vote and Other Problems when using Computational Tools.
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- Contribution to journal › Article
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Mark
Performance of Protein Disorder Prediction Programs on Amino Acid Substitutions
(
- Contribution to journal › Scientific review
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Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
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Mark
Proper reporting of predictor performance.
(
- Contribution to journal › Letter
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Mark
Contribution of pseudogenes to sequence diversity.
2014) p.15-24(
- Chapter in Book/Report/Conference proceeding › Book chapter
- 2013
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Mark
Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer
(
- Contribution to journal › Article
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Mark
Variation Ontology for annotation of variation effects and mechanisms.
2013) In Genome Research(
- Contribution to journal › Article
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Mark
Gene Expression Profiles in Human and Mouse Primary Cells Provide New Insights into the Differential Actions of Vitamin D-3 Metabolites
(
- Contribution to journal › Article
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Mark
Proteomic Changes during B Cell Maturation: 2D-DIGE Approach
(
- Contribution to journal › Article
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Mark
Structure-based prediction of the effects of a missense variant on protein stability
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- Contribution to journal › Article
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Mark
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish
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- Contribution to journal › Article
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Mark
Guidelines for reporting and using prediction tools for genetic variation analysis
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- Contribution to journal › Article
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Mark
Making Sense of Unclassified Missense Substitutions in MMR Genes.
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- Contribution to journal › Article
- 2012
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Mark
How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
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- Contribution to journal › Article
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Mark
Conserved and Quickly Evolving Immunome Genes Have Different Evolutionary Paths
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- Contribution to journal › Article
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Mark
VarioML framework for comprehensive variation data representation and exchange
(
- Contribution to journal › Article
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Mark
Human variome project country nodes: Documenting genetic information within a country
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- Contribution to journal › Article
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Mark
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
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- Contribution to journal › Article
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Mark
Classification of mismatch repair gene missense variants with PON-MMR
(
- Contribution to journal › Article