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PMID: 15758625
Turcios NL
Cystic fibrosis: an overview.
J Clin Gastroenterol. 2005 Apr;39(4):307-17.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
55
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15758625:55:120
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 15758625:55:108
status:
NEW
view ABCC7 p.Pro574His details
ABCC7 p.Gly551Ser
X
ABCC7 p.Gly551Ser 15758625:55:97
status:
NEW
view ABCC7 p.Gly551Ser details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 15758625:55:114
status:
NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 15758625:55:103
status:
NEW
view ABCC7 p.Gly85Glu details
Pancreatic Sufficient CF Mutations Dominant Pancreatic-Sufficient Variable Pancreatic-Sufficient
G551S
G85E
P574H
R347P
R117H
3849 + 10kb C !
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56
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 15758625:56:8
status:
NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 15758625:56:2
status:
NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 15758625:56:14
status:
NEW
view ABCC7 p.Arg347His details
T
R334W
A455E
R347H
2789 5G !
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57
ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 15758625:57:2
status:
NEW
view ABCC7 p.Arg352Gln details
A
R352Q
T3381 may mimic biliary atresia.
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