Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.W575*
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SCNN1G

NM_001039.4:p.W575*

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

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family.

Zhang D et al.

Frontiers in Pediatrics, 2022

Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.

Kozina AA et al.

Bmc Nephrology, 2019

Molecular genetics of Liddle's syndrome.

Yang KQ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."