Varaico: Literature-Extracted Genetic Variants

Gene:SEC63
Variant:p.R239*
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SEC63

NM_007214.5:p.R239*

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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

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