Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q220K
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CFTR

NM_000492.4:p.Q220K

Associated Papers

Impact of cholesterol and Lumacaftor on the folding of CFTR helical hairpins.

Schenkel M et al.

Biochimica Et Biophysica Acta. Biomembranes, 2023

Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.

Wehbi H et al.

Biochemistry, 2007

Topogenesis of cystic fibrosis transmembrane conductance regulator (CFTR): regulation by the amino terminal transmembrane sequences.

Chen M et al.

Biochemistry, 1999

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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."