Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.Y129Y
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SCNN1G

NM_001039.4:p.Y129Y

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

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

Association of sodium channel gamma-subunit promoter variant with blood pressure.

Iwai N et al.

Hypertension (dallas, Tex. : 1979), 2001

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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."