Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.F61L
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SCNN1A

NM_001038.6:p.F61L

Associated Papers

Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Minso R et al.

Bmj Open Respiratory Research, 2020

33020115 (PubMed )
Supplement: bmjresp-2020-000736supp001.xlsx › Tabelle1

The epithelial sodium channel (ENaC) as a therapeutic target for cystic fibrosis lung disease.

Moore PJ et al.

Expert Opinion on Therapeutic Targets, 2018

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Hanukoglu I et al.

Gene, 2016

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK et al.

Human Mutation, 2009

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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."