Varaico: Literature-Extracted Genetic Variants

Gene:PRKCSH
Variant:p.N72insFs
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PRKCSH

NM_001289104.2:p.N72insFs

Associated Papers

Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.

Cnossen WR et al.

Journal of Clinical Laboratory Analysis, 2016

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."