Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.C422W
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PRKCSH

NM_001289104.2:p.C422W

Associated Papers

Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation.

Peces R et al.

World Journal of Gastroenterology, 2005

Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.

Drenth JP et al.

Hepatology (baltimore, Md.), 2004

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Li A et al.

American Journal of Human Genetics, 2003

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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."