Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1318A
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CFTR

NM_000492.4:p.V1318A

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

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

Farhat R et al.

Comptes Rendus Biologies, 2017

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 2006

A large-scale study of the random variability of a coding sequence: a study on the CFTR gene.

Modiano G et al.

European Journal of Human Genetics : Ejhg, 2005

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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."