Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K584E
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CFTR

NM_000492.4:p.K584E

Associated Papers

The cystic fibrosis gene: a molecular genetic perspective.

Tsui LC et al.

Cold Spring Harbor Perspectives in Medicine, 2013

Multiple mechanisms influence regulation of the cystic fibrosis transmembrane conductance regulator gene promoter.

Lewandowska MA et al.

American Journal of Respiratory Cell and Molecular Biology, 2010

Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

Da Paula AC et al.

The Journal of Biological Chemistry, 2010

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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."