ABCC7 p.Ser712Cys
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PMID: 17660831
[PubMed]
Baker JM et al: "CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices."
No.
Sentence
Comment
149
Milder phenotypes are seen for many cystic fibrosis-causing CFTR missense mutations within the R region, consistent with this multisite behavior, and the majority of these mutations are at the PKA recognition and phosphorylation sites (R709N, S712C, R735K, S737F, V754M, R766M, R810G and S813P; http://www.
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ABCC7 p.Ser712Cys 17660831:149:243
status: NEW