ABCC2 p.Tyr1275*
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PMID: 21044052
[PubMed]
Pacifico L et al: "Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome."
No.
Sentence
Comment
28
The study of allelic segregation in Letter to the Editor R100X R393W IVS6_IVS7del L441M IVS13 +2 T>A IVS15 +2 T>C G676R IVS18 +2 T>C R768W * 2748_2883del * R1066X * 3399_3400del L1173F 3615_3843del* Y1275X * R1310X Q1382R R1392_M1393del S325X W709R T1273A IVS8 +4 A>G 1256_1272delins CT 4292_4293delR1150H E1352Q * Exon 1 32 Fig. 1.
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ABCC2 p.Tyr1275* 21044052:28:201
status: NEW