Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.G573D
Back to variants list

SCNN1B

NM_000336.3:p.G573D

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 in a Serbian family and literature review of underlying mutations.

Bogdanović R et al.

European Journal of Pediatrics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."