Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S511C
Back to variants list

CFTR

NM_000492.4:p.S511C

Associated Papers

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

Correctors promote maturation of cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by binding to the protein.

Wang Y et al.

The Journal of Biological Chemistry, 2007

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."