Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L214L
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CFTR

NM_000492.4:p.L214L

Associated Papers

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R et al.

Cellular & Molecular Biology Letters, 2016

28536625 (PubMed )
Supplement: 11658_2016_25_MOESM2_ESM.xlsx › Sheet2

Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.

Le Maréchal C et al.

Transfusion, 2007

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.

Pompei F et al.

European Journal of Human Genetics : Ejhg, 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."