Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C1395*
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CFTR

NM_000492.4:p.C1395*

Associated Papers

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

Covalent modification of the regulatory domain irreversibly stimulates cystic fibrosis transmembrane conductance regulator.

Cotten JF et al.

The Journal of Biological Chemistry, 1997

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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."