ABCC7 p.Leu206Val
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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
195
Changing Leu to Val (p.L206V) and Phe (p.L206F)-small and large strictly hydrophobic residues-did not alter CFTR processing.
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ABCC7 p.Leu206Val 15776432:195:23
status: NEW