Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q552H
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CFTR

NM_000492.4:p.Q552H

Associated Papers

On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

Vergani P et al.

The Journal of General Physiology, 2003

Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.

Gadsby DC et al.

Physiological Reviews, 1999

Structural and functional similarities between the nucleotide-binding domains of CFTR and GTP-binding proteins.

Carson MR et al.

Biophysical Journal, 1995

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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."