Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.L609F
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SCNN1G

NM_001039.4:p.L609F

Associated Papers

A novel AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.

Zhao Y et al.

Postgraduate Medicine, 2024

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table

Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.

Kamide K et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2004

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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."