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- 2012
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Mark
PON-P: Integrated Predictor for Pathogenicity of Missense Variants
(
- 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
alpha-Synuclein expression and Nrf2 deficiency cooperate to aggravate protein aggregation, neuronal death and inflammation in early-stage Parkinson's disease
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- Contribution to journal › Article
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Mark
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
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- Contribution to journal › Article
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Mark
Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.
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- Contribution to journal › Article
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Mark
Curating gene variant databases (LSDBs): toward a universal standard.
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- Contribution to journal › Article
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Mark
Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes.
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- Contribution to journal › Article
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Mark
Disease-associated patterns of disomic chromosomes in hyperhaploid neoplasms.
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- Contribution to journal › Article
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Mark
A novel GTF2I/NCOA2 fusion gene emphasizes the role of NCOA2 in soft tissue angiofibroma development.
2012) In Genes, Chromosomes and Cancer(
- Contribution to journal › Letter
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Mark
Guidelines for establishing locus specific databases.
(
- Contribution to journal › Article