Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.G447Splc
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PRKCSH

NM_002743.3:p.G447Splc

Associated Papers

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.

Schönauer R et al.

Gastroenterology, 2024

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Cnossen WR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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

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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."