ABCB11 p.His1198Arg

Predicted by SNAP2: A: D (63%), C: D (63%), D: D (53%), E: D (71%), F: D (59%), G: D (63%), I: D (59%), K: N (61%), L: D (59%), M: D (63%), N: N (53%), P: D (85%), Q: D (59%), R: D (75%), S: N (57%), T: D (59%), V: D (66%), W: N (53%), Y: N (61%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, 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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[hide] Li L, Deheragoda M, Lu Y, Gong J, Wang J
Hypothyroidism Associated with ATP8B1 Deficiency.
J Pediatr. 2015 Dec;167(6):1334-1339.e1. doi: 10.1016/j.jpeds.2015.08.037. Epub 2015 Sep 15., [PMID:26382629]

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