ABCC8 p.Phe169Val
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PMID: 21981029
[PubMed]
Rubio-Cabezas O et al: "KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life."
No.
Sentence
Comment
55
The H401Y and F169V variants were inherited from an unaffected parent (mother and father, respectively) and are therefore unlikely to be causative.
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ABCC8 p.Phe169Val 21981029:55:14
status: NEW