ABCB11 p.Tyr1311*
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[hide] Clinical variability of mutations in the ABCB11 ge... Rev Esp Enferm Dig. 2013 Jan;105(1):52-4. Jaquotot-Herranz M, Casanova-Martinez L, Olveira-Martin A, Castillo-Grau P, Alvarez-Garcia L, Jara-Vega P, Gea-Rodriguez F
Clinical variability of mutations in the ABCB11 gene: a case report.
Rev Esp Enferm Dig. 2013 Jan;105(1):52-4., [PMID:23548013]
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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