ABCC7 p.Leu206Glu
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PMID: 15776432
[PubMed]
Clain J et al: "Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype."
No.
Sentence
Comment
196
In contrast, CFTR misprocessing was induced specifically by different polar residues Glu (p.L206E), Arg (p.L206R), or Tyr (p.L206Y).
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ABCC7 p.Leu206Glu 15776432:196:92
status: NEW