ABCC7 p.Arg347Trp
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PMID: 11589722
[PubMed]
Walkowiak J et al: "Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency."
No.
Sentence
Comment
85
Previously, it has been shown that pancreatic insufficiency was related to mutation G551D and pancreatic sufficiency to R347W and S549N [11].
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ABCC7 p.Arg347Trp 11589722:85:120
status: NEW