Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F1294C
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CFTR

NM_000492.4:p.F1294C

Associated Papers

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

He L et al.

The Journal of Biological Chemistry, 2008

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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."