Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G544V
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CFTR

NM_000492.4:p.G544V

Associated Papers

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.

Bickmann JK et al.

Clinical Chemistry, 2009

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM et al.

Molecular Biology and Evolution, 2001

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

de Meeus A et al.

Human Mutation, 1998

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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."