Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.C133Y
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SCNN1A

NM_001038.6:p.C133Y

Associated Papers

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.

Efthymiadou A et al.

American Journal of Physiology. Endocrinology and Metabolism, 2023

Restoration of Epithelial Sodium Channel Function by Synthetic Peptides in Pseudohypoaldosteronism Type 1B Mutants.

Willam A et al.

Frontiers in Pharmacology, 2017

Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure.

Kellenberger S et al.

Physiological Reviews, 2002

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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."