Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.N449Splc
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SCNN1B

NM_000336.3:p.N449Splc

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_

A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population.

Alzahrani AS et al.

Journal of the Endocrine Society, 2021

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

Cayir A et al.

Hormone Research in Paediatrics, 2019

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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."