• Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12874).
  

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Geuvadis Consortium
Transcriptome and genome sequencing uncovers functional variation in humans.
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Geuvadis Consortium
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.
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