Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.E583fs
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SCNN1B

NM_000336.3:p.E583fs

Associated Papers

A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels.

Wang X et al.

Nephron, 2022

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M et al.

International Journal of Molecular Sciences, 2018

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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."