Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.Y571delFs
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SCNN1B

NM_000336.3:p.Y571delFs

Associated Papers

Liddle syndrome with a SCNN1B mutation: a case report and systematic review.

Tang Q et al.

Bmc Nephrology, 2025

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.

Lu Y et al.

Molecular Medicine Reports, 2024

38099339 (PubMed )
Supplement: Supplementary_Data.pdf

Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent.

Brower RK et al.

Aace Clinical Case Reports, 0

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