Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.K155R
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PRKCSH

NM_001289104.2:p.K155R

Associated Papers

Molecular Mechanisms of Isolated Polycystic Liver Diseases.

Yu Z et al.

Frontiers in Genetics, 2022

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

Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.

Waanders E et al.

Histochemistry and Cell Biology, 2008

Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.

Waanders E et al.

Human Mutation, 2006

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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."