Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P1786L
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PKD1

NM_001009944.3:p.P1786L

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 genetics and mechanism of autosomal dominant polycystic kidney disease.

Wu G et al.

Molecular Genetics and Metabolism, 2000

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

Thomas R et al.

American Journal of Human Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."