ABCC2 p.Arg1066*
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PMID: 11477083
[PubMed]
Mor-Cohen R et al: "Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome."
No.
Sentence
Comment
223
These mutations include two missense mutations (R768Y, Q1382R), a nonsense mutation (R1066stop), three splice site mutations (1815ϩ2, T3A; 1967ϩ2, T3C; 2439ϩ2, T3C) and a deletion mutation (4175del6).
X
ABCC2 p.Arg1066* 11477083:223:85
status: NEW