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PMID: 18604651
Witt H, Bhatia E
Genetic aspects of tropical calcific pancreatitis.
Rev Endocr Metab Disord. 2008 Sep;9(3):213-26.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
271
ABCC7 p.Arg1070Gln
X
ABCC7 p.Arg1070Gln 18604651:271:109
status:
NEW
view ABCC7 p.Arg1070Gln details
Two patients (11%) showed a CFTR variant: one subject was homozygous for 5T and the other heterozygous for p.
R1070Q
, which is presumed to be a mild missense variant.
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