ABCB4 p.Pro741Leu
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PMID: 24914347
[PubMed]
Jirsa M et al: "ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones."
No.
Sentence
Comment
73
In patient 31, a novel heterozygous variation was found (c.2222C>T, leading to predicted conservative amino acid substitution p.Pro741Leu in the extracellular loop between transmembrane domains 7 and 8).
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ABCB4 p.Pro741Leu 24914347:73:128
status: NEW72 In patient 31, a novel heterozygous variation was found (c.2222C>T, leading to predicted conservative amino acid substitution p.Pro741Leu in the extracellular loop between transmembrane domains 7 and 8).
X
ABCB4 p.Pro741Leu 24914347:72:128
status: NEW