Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.Y571Fs
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SCNN1B

NM_000336.3:p.Y571Fs

Associated Papers

Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.

Li A et al.

Endocrine Journal, 2026

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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."