Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K26E
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CFTR

NM_000492.4:p.K26E

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

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Chandane P et al.

Lung India : Official Organ of Indian Chest Society, 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

CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.

Varkki SD et al.

The Lancet Regional Health. Southeast Asia, 2024

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

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.

Salinas DB et al.

Annals of the American Thoracic Society, 2023

36409994 (PubMed )
Supplement: salinas_data_supplement.pdf

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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
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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."