Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1108L
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CFTR

NM_000492.4:p.V1108L

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

Phenotypic Evaluation of Rare Cystic Fibrosis Transmembrane Conductance Regulator Mutation Combinations in People with Cystic Fibrosis in Queensland, Australia.

Evans IES et al.

Journal of Clinical Medicine, 2024

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

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS et al.

Andrology, 2018

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M et al.

Human Mutation, 2017

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

Spectrum of CFTR gene sequence variants in a northern Portugal population.

Grangeia A et al.

Pulmonology, 0

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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."