Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.V541L
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SCNN1D

NM_001130413.4:p.V541L

Associated Papers

Genetic variants in patients with multiple arterial aneurysms.

Körfer D et al.

Langenbeck's Archives of Surgery, 2024

39382597 (PubMed )
Supplement: 423_2024_3488_MOESM2_ESM.xlsx › Supplemental_Table_2

Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.

Ward A et al.

Human Mutation, 2024

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations.

Agrawal PB et al.

American Journal of Respiratory Cell and Molecular Biology, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580
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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."