Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H939D
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CFTR

NM_000492.4:p.H939D

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

Frequency of allele variations in the CFTR gene in a Mexican population.

Cantú-Reyna C et al.

Bmc Medical Genomics, 2021

34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1

Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.

Castaldo A et al.

Diagnostics (basel, Switzerland), 2020

32784480 (PubMed )
Supplement: diagnostics-10-00570-s001.zip › supple › Supplemental_Table_2.pdf

Cooperativity and flexibility of cystic fibrosis transmembrane conductance regulator transmembrane segments participate in membrane localization of a charged residue.

Carveth K et al.

The Journal of Biological Chemistry, 2002

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

Claustres M et al.

Human Mutation, 2000

Genotype analysis of adult cystic fibrosis patients.

Férec C et al.

Human Molecular Genetics, 1993

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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."