Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.S480Splc
Back to variants list

SCNN1A

NM_001038.6:p.S480Splc

Associated Papers

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

Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.

Cayir A et al.

Hormone Research in Paediatrics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."