Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A1926V
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PKD1

NM_001009944.3:p.A1926V

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Tan AY et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC et al.

Human Mutation, 2009

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