Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R31H
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CFTR

NM_000492.4:p.R31H

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-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

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

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

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

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 Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

El-Seedy AS et al.

Frontiers in Genetics, 2017

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.

El-Seedy A et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2016

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2

Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.

Nakano E et al.

Digestive Diseases and Sciences, 2015

[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].

Peskov SA et al.

Meditsina Truda I Promyshlennaia Ekologiia, 2013

Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

Gallati S et al.

Reproductive Biomedicine Online, 2009

A haplotype framework for cystic fibrosis mutations in Iran.

Elahi E et al.

The Journal of Molecular Diagnostics : Jmd, 2006

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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."