Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.N72_G73insFs
Back to variants list

PRKCSH

NM_001289104.2:p.N72_G73insFs

Associated Papers

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.

Waanders E et al.

Clinical Genetics, 2010

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."