Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.G560S
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SCNN1A

NM_001038.6:p.G560S

Associated Papers

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

Chantzaras AP et al.

Paediatric Respiratory Reviews, 2025

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

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

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.

Turan I et al.

Clinical Endocrinology, 2018

Unimpaired postnatal respiratory adaptation in a preterm human infant with a homozygous ENaC-α unit loss-of-function mutation.

Huppmann S et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2011

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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."