Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.S562L
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SCNN1A

NM_001038.6:p.S562L

Associated Papers

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.

Nakata Y et al.

Journal of Clinical Medicine, 2025

40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_3__ENaC_group_.xlsx › ENaC_group_n_54_

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

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

Willam A et al.

Frontiers in Pharmacology, 2017

Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.

Nur N et al.

Case Reports in Pediatrics, 2017

Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel.

Boiko N et al.

Physiological Reports, 2015

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Riepe FG et al.

Clinical Endocrinology, 2009

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG

Hormone Research, 2009

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O et al.

Clinical Endocrinology, 2005

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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."