ABCB11 p.Leu233Ser
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PMID: 23548013
[PubMed]
Jaquotot-Herranz M et al: "Clinical variability of mutations in the ABCB11 gene: a case report."
No.
Sentence
Comment
40
The first mutation was found in exon 8 (change T>C in nucleotide 698), meaning the substitution of leucine 233 for serine (L233S) took place.
X
ABCB11 p.Leu233Ser 23548013:40:99
status: NEWX
ABCB11 p.Leu233Ser 23548013:40:123
status: NEW