Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1401A
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CFTR

NM_000492.4:p.E1401A

Associated Papers

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

Grangeia A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Localization of sequences within the C-terminal domain of the cystic fibrosis transmembrane conductance regulator which impact maturation and stability.

Gentzsch M et al.

The Journal of Biological Chemistry, 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."