ABCC7 p.Leu1242Ile
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PMID: 19101985
[PubMed]
Byrne JA et al: "Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing."
No.
Sentence
Comment
212
With respect to L1242I, disruption of a Walker B motif is predicted to cause severe functional consequences.64 No detectable protein was observed for the predicted missense mutations V284L (c.850GϾC) and A588V (c.1763CϾT; Fig. 5A).
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ABCC7 p.Leu1242Ile 19101985:212:16
status: NEW