Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.R56*
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SCNN1A

NM_001038.6:p.R56*

Associated Papers

Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.

Chantzaras AP et al.

Paediatric Respiratory Reviews, 2025

Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.

Gao Z et al.

Archives of Endocrinology and Metabolism, 2023

De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.

Wang Q et al.

Molecular Genetics & Genomic Medicine, 2022

Activation of autosomal recessive Pseudohypoaldosteronism1 ENaC with aldosterone.

Shabbir W et al.

European Journal of Pharmacology, 2021

Learning Physiology From Inherited Kidney Disorders.

van der Wijst J et al.

Physiological Reviews, 2019

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

Welzel M et al.

European Journal of Endocrinology, 2013

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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."