Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F316fs
Back to variants list

CFTR

NM_000492.4:p.F316fs

Associated Papers

The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

Makarova M et al.

International Journal of Molecular Sciences, 2023

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_MOESM3_ESM.xls › TableS2

CFTR genotype-related body water and electrolyte balance during a marathon.

Del Coso J et al.

Scandinavian Journal of Medicine & Science in Sports, 2016

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.

Brennan ML et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."