ABCC7 p.Tyr563Cys
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PMID: 16132229
[PubMed]
Eudes R et al: "Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations."
No.
Sentence
Comment
227
Missense mutations affecting Y563 (Y563N, Y563D, Y563C) have been reported, reduced levels of mature CFTR being observed for Y563N [40].
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ABCC7 p.Tyr563Cys 16132229:227:49
status: NEW