Article
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Human genetics - 1 Mar 2021
Sanders Morgan, Lawlor James M J, Li Xiaopeng, Schuen John N, Millard Susan L, Zhang Xi, Buck Leah, Grysko Bethany, Uhl Katie L, Hinds David, Stenger Cynthia L, Morris Michele, Lamb Neil, Levy Hara, Bupp Caleb, Prokop Jeremy W
Abstract excerpt
Cystic Fibrosis (CF) is caused most often by removal of amino acid 508 (Phe508del, deltaF508) within CFTR, yet dozens of additional CFTR variants are known to give rise to CF and many variants in the genome are known to contribute to CF pathology. To address CFTR coding variants, we developed a sequence-to-structure-to-dynamic matrix for all amino acids of CFTR using 233 vertebrate species, CFTR structure within...
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