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- 2012
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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
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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Human variome project country nodes: Documenting genetic information within a country
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- Contribution to journal › Article
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Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
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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
FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma.
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- Contribution to journal › Article
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A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.
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- Contribution to journal › Article
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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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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