ABCC7 p.Glu379*
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PMID: 25910067
[PubMed]
Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."
No.
Sentence
Comment
373
[1117-8A>G;1727G>C;2002C>T] uncertain: found only with an unknown allele in trans 1249-8A>G nd; G576A non CF-causing; R668C non CF-causing 1259insA c.1127_1128insA CF-PI CF-causing p.Gln378AlafsX4 E379X c.1135G>T CF-PI nd p.Glu379* M394R c.1181T>G CF-PI nd p.Met394Arg (TG)11T5 c.
X
ABCC7 p.Glu379* 25910067:373:197
status: NEW