Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.P594ins1
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SCNN1G

NM_001039.4:p.P594ins1

Associated Papers

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

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

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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."