Varaico: Literature-Extracted Genetic Variants

Gene:SEC63
Variant:p.R245Splc
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SEC63

NM_007214.5:p.R245Splc

Associated Papers

A BBS4 mutation causes autosomal dominant polycystic liver disease.

Cui Y et al.

Genes & Diseases, 2024

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

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."