ABCB11 p.Arg696Trp

Reviews: p.Arg696Gln N
Predicted by SNAP2: A: N (57%), C: D (59%), D: D (63%), E: D (53%), F: D (53%), G: D (59%), H: N (72%), I: N (61%), K: N (78%), L: N (57%), M: N (66%), N: N (61%), P: D (53%), Q: N (57%), S: N (78%), T: N (66%), V: N (53%), W: D (75%), Y: D (53%),
Predicted by PROVEAN: A: N, C: D, D: D, E: N, F: D, G: D, H: N, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, S: N, T: N, V: N, W: D, Y: D,

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[hide] Hu G, He P, Liu Z, Chen Q, Zheng B, Zhang Q
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Mol Med Rep. 2014 Sep;10(3):1264-74. doi: 10.3892/mmr.2014.2349. Epub 2014 Jun 20., [PMID:24969679]

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