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- 2017
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Mark
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases
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- Contribution to journal › Article
- 2016
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Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article
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Mark
Human Variome Project Quality Assessment Criteria for Variation Databases.
(
- Contribution to journal › Article
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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
Both Generic and Protein-Specific Tolerance Predictors Are Needed
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Variation Interpretation Predictors : Principles, Types, Performance, and Choice
(
- Contribution to journal › Article
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Mark
Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
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- Contribution to journal › Article
- 2015
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Mark
Varisnp, A Benchmark Database For Variations from dbSNP.
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- Contribution to journal › Article
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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
Characterization of All Possible Single-Nucleotide Change Caused Amino Acid Substitutions in the Kinase Domain of Bruton Tyrosine Kinase
(
- Contribution to journal › Article