Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.G454Splc
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SCNN1A

NM_001038.6:p.G454Splc

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

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

Nur N et al.

Case Reports in Pediatrics, 2017

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

Welzel M et al.

European Journal of Endocrinology, 2013

Critical points in the management of pseudohypoaldosteronism type 1.

Güran T et al.

Journal of Clinical Research in Pediatric Endocrinology, 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."