Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.L430delFs
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SCNN1B

NM_000336.3:p.L430delFs

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_

Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia.

Liu Z et al.

Frontiers in Pediatrics, 2022

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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."