ABCC7 p.Ile507Leu
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PMID: 11788090
[PubMed]
Strandvik B et al: "Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations."
No.
Sentence
Comment
55
aThe second mutation (I507L) is mild; therefore, the patient is PS.
X
ABCC7 p.Ile507Leu 11788090:55:22
status: NEW