Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.R236C
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SEC61A1

NM_013336.4:p.R236C

Associated Papers

Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

Karpman D et al.

Clinical Kidney Journal, 2024

Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.

Weiand M et al.

Scientific Reports, 2024

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.

Schlevogt B et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2023

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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."