Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G228A
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CFTR

NM_000492.4:p.G228A

Associated Papers

Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Ge N et al.

The Journal of Biological Chemistry, 2004

Polar residues in membrane domains of proteins: molecular basis for helix-helix association in a mutant CFTR transmembrane segment.

Partridge AW et al.

Biochemistry, 2002

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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."