Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V510L
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CFTR

NM_000492.4:p.V510L

Associated Papers

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

Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes.

Rechitsky S et al.

Journal of Assisted Reproduction and Genetics, 1999

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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."