ABCB4 p.Ala934Thr

Predicted by SNAP2: C: D (85%), D: D (80%), E: D (75%), F: D (80%), G: D (91%), H: D (75%), I: D (66%), K: D (80%), L: D (75%), M: D (66%), N: D (63%), P: D (85%), Q: D (95%), R: D (75%), S: N (53%), T: D (91%), V: D (66%), W: D (80%), Y: D (95%),
Predicted by PROVEAN: C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrie N
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Gastroenterology. 2008 Jul;135(1):131-41. Epub 2008 Mar 26., [PMID:18482588] [PubMed]

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[hide] Rosmorduc O, Poupon R
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Orphanet J Rare Dis. 2007 Jun 11;2:29., [PMID:17562004] [PubMed]

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[hide] Oude Elferink RP, Paulusma CC
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Pflugers Arch. 2007 Feb;453(5):601-10. Epub 2006 Apr 19., [PMID:16622704] [PubMed]

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[hide] Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R
ABCB4 gene mutation-associated cholelithiasis in adults.
Gastroenterology. 2003 Aug;125(2):452-9., [PMID:12891548] [PubMed]

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[hide] Ganne-Carrie N, Baussan C, Grando V, Gaudelus J, Cresteil D, Jacquemin E
Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills.
J Hepatol. 2003 May;38(5):693-4., [PMID:12713886] [PubMed]

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