Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1196T
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CFTR

NM_000492.4:p.S1196T

Associated Papers

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2005

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

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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."