Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1154G
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CFTR

NM_000492.4:p.D1154G

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.

Yang X et al.

Fertility and Sterility, 2015

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.

Mornon JP et al.

Cellular and Molecular Life Sciences : Cmls, 2008

The phenotypic consequences of CFTR mutations.

Rowntree RK et al.

Annals of Human Genetics, 2003

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M et al.

Human Mutation, 2000

Characterization of mutations located in exon 18 of the CFTR gene.

Vankeerberghen A et al.

Febs Letters, 1998

Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

De Braekeleer M et al.

Molecular Human Reproduction, 1996

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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."