PMID: 24954874

Shelton CA, Whitcomb DC
Genetics and treatment options for recurrent acute and chronic pancreatitis.
Curr Treat Options Gastroenterol. 2014 Sep;12(3):359-71. doi: 10.1007/s11938-014-0022-y., [PubMed]
Sentences
No. Mutations Sentence Comment
44 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 24954874:44:89
status: NEW
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ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 24954874:44:137
status: NEW
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ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 24954874:44:83
status: NEW
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ABCC7 p.Ser1235Arg
X
ABCC7 p.Ser1235Arg 24954874:44:125
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 24954874:44:117
status: NEW
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ABCC7 p.Leu997Phe
X
ABCC7 p.Leu997Phe 24954874:44:110
status: NEW
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ABCC7 p.Arg170His
X
ABCC7 p.Arg170His 24954874:44:96
status: NEW
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ABCC7 p.Leu967Ser
X
ABCC7 p.Leu967Ser 24954874:44:103
status: NEW
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ABCC7 p.Arg74Gln
X
ABCC7 p.Arg74Gln 24954874:44:77
status: NEW
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 Members of the CFTR bicarbonate-defective genetic variants (CFTRBD ) include R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N [23ߦߦ, 25]. Login to comment