ABCB11 p.Tyr1311*
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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
41
The second was in exon 27 (change C>A in nucleotide 3933) which entailed the substitution of tyrosine 1311 for a stop codon (Y1311X).
X
ABCB11 p.Tyr1311* 23548013:41:125
status: NEW