Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G551C
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CFTR

NM_000492.4:p.G551C

Associated Papers

Gating of the CFTR Cl- channel by ATP-driven nucleotide-binding domain dimerisation.

Hwang TC et al.

The Journal of Physiology, 2009

Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

Wang X et al.

The Journal of General Physiology, 2009

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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."