Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.R597delFs
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SCNN1B

NM_000336.3:p.R597delFs

Associated Papers

A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.

Ding X et al.

Experimental and Therapeutic Medicine, 2019

Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B.

Fan P et al.

Endocrine Connections, 2018

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.

Yang KQ et al.

Clinical Endocrinology, 2015

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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."