Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A223D
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CFTR

NM_000492.4:p.A223D

Associated Papers

Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.

Cheung JC et al.

Biochemistry, 2008

Non-native interhelical hydrogen bonds in the cystic fibrosis transmembrane conductance regulator domain modulated by polar mutations.

Choi MY et al.

Biochemistry, 2004

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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."