Varaico: Literature-Extracted Genetic Variants

Gene:SEC63
Variant:p.W58*
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SEC63

NM_007214.5:p.W58*

Associated Papers

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.

Sierks D et al.

Jhep Reports : Innovation in Hepatology, 2022

36246085 (PubMed )
Supplement: mmc1.pdf

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

Polycystic liver disease is a disorder of cotranslational protein processing.

Drenth JP et al.

Trends in Molecular Medicine, 2005

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S et al.

Nature Genetics, 2004

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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."