Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T663A
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CFTR

NM_000492.4:p.T663A

Associated Papers

Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.

Brennan ML et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016

Extensive molecular analysis of patients bearing CFTR-related disorders.

Amato F et al.

The Journal of Molecular Diagnostics : Jmd, 2012

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

Rauh R et al.

The Journal of Physiology, 2010

Upregulated expression of ENaC in human CF nasal epithelium.

Bangel N et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

Stanke F et al.

Human Genetics, 2006

CFTR fails to inhibit the epithelial sodium channel ENaC expressed in Xenopus laevis oocytes.

Nagel G et al.

The Journal of Physiology, 2005

Cystic fibrosis transmembrane conductance regulator differentially regulates human and mouse epithelial sodium channels in Xenopus oocytes.

Yan W et al.

The Journal of Biological Chemistry, 2004

The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension.

Snyder PM

Endocrine Reviews, 2002

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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."