Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P592S
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SCNN1B

NM_000336.3:p.P592S

Associated Papers

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

The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.

Swift PA et al.

American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2004

Epithelial sodium channel, salt intake, and hypertension.

Hummler E

Current Hypertension Reports, 2003

Japanese individuals do not harbor the T594M mutation but do have the P592S mutation in the C-terminus of the beta-subunit of the epithelial sodium channel: the Ohasama study.

Matsubara M et al.

Journal of Hypertension, 2000

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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."