Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F533L
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CFTR

NM_000492.4:p.F533L

Associated Papers

Substitution of Yor1p NBD1 residues improves the thermal stability of Human Cystic Fibrosis Transmembrane Conductance Regulator.

Xavier BM et al.

Protein Engineering, Design & Selection : Peds, 2017

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Singh M et al.

Respirology (carlton, Vic.), 2015

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

Poulou M et al.

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

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.

Kambouris M et al.

European Journal of Pediatrics, 2000

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Banjar HH et al.

Annals of Saudi Medicine, 0

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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."