Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K246K
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CFTR

NM_000492.4:p.K246K

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological 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_MOESM1_ESM.xls › TableS1_CFTR_sites

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Scott A et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.

Schrijver I et al.

American Journal of Medical Genetics. Part A, 2005

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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."