Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.G355R
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SCNN1A

NM_001038.6:p.G355R

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Analyses of epithelial Na+ channel variants reveal that an extracellular β-ball domain critically regulates ENaC gating.

Wang X et al.

The Journal of Biological Chemistry, 2019

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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."