• Mutation; HGNC; HGNC:2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM12752).
  

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Global variation in copy number in the human genome.
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PubMed=19043577; DOI=10.1371/journal.pgen.1000287; PMCID=PMC2583954
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PubMed=20856902; DOI=10.1371/journal.pbio.1000480; PMCID=PMC2939022
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PubMed=21397061; DOI=10.1016/j.ajhg.2011.02.004; PMCID=PMC3059424
Campbell C.D., Sampas N., Tsalenko A., Sudmant P.H., Kidd J.M., Malig M., Vu T.H., Vives L., Tsang P., Bruhn L., Eichler E.E.
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PubMed=23676674; DOI=10.1038/nature12223; PMCID=PMC3789121
Wu L.-F., Candille S.I., Choi Y., Xie D., Jiang L.-H., Li-Pook-Than J., Tang H., Snyder M.P.
Variation and genetic control of protein abundance in humans.
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PubMed=24924344; DOI=10.1186/1756-0500-7-360; PMCID=PMC4068968
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Application of next generation sequencing to CEPH cell lines to discover variants associated with FDA approved chemotherapeutics.
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