ABCB11 p.Ala257Gly
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PMID: 20232290
[PubMed]
Davit-Spraul A et al: "ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history."
No.
Sentence
Comment
102
12† p.T1210P p.T1210P 0.11 BSEP À PFIC2 no. 13 c.3213 15 G>A p.A1192EfsX50 na BSEP À PFIC2 no.
X
ABCB11 p.Ala257Gly 20232290:102:13
status: NEW105 20† p.A257G p.G982R na na PFIC2 no. 21* p.I182K c.3213 15 G>A na BSEP À PFIC2 no. 22 p.D549V c.76 13 G>T na na PFIC2 no.
X
ABCB11 p.Ala257Gly 20232290:105:13
status: NEW