Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F1068C
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CFTR

NM_000492.4:p.F1068C

Associated Papers

Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

Prins S et al.

The Journal of Biological Chemistry, 2022

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Serohijos AW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."