ABCB4 p.Gly773Val
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PMID: 24914347
[PubMed]
Jirsa M et al: "ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones."
No.
Sentence
Comment
75
Another predicted amino acid substitution (p.Gly773Val, localized in transmembrane domain 8 and caused by the novel mutation c.2318G>T) was found in a heterozygous state in patient 32.
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ABCB4 p.Gly773Val 24914347:75:45
status: NEW94 Table 2 Known variations in ABCB4, ABCB11 and ABCG8 found in 35 pediatric subjects with idiopathic gallstones in pediatric patients with idiopathic gallstones who met clinical criteria for the diagnosis of LPAC was the variation c.2318G>T (p.Gly773Val ) found in a heterozygous state in only one affected subject.
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ABCB4 p.Gly773Val 24914347:94:242
status: NEW74 Another predicted amino acid substitution (p.Gly773Val, localized in transmembrane domain 8 and caused by the novel mutation c.2318G>T) was found in a heterozygous state in patient 32.
X
ABCB4 p.Gly773Val 24914347:74:45
status: NEW93 Table 2 Known variations in ABCB4, ABCB11 and ABCG8 found in 35 pediatric subjects with idiopathic gallstones in pediatric patients with idiopathic gallstones who met clinical criteria for the diagnosis of LPAC was the variation c.2318G>T (p.Gly773Val ) found in a heterozygous state in only one affected subject.
X
ABCB4 p.Gly773Val 24914347:93:242
status: NEW