• Mutation; HGNC; HGNC:2625; CYP2D6; Simple; p.Pro34Ser (c.100C>T); ClinVar=VCV000016893; Zygosity=Heterozygous; Note=CYP2D6*10 allele (Coriell=GM17057).
  

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003
Tomi Pastinen, Robert Sladek, Scott Gurd, Alya'a Sammak, Bing Ge, Pierre Lepage, Karine Lavergne, Amelie Villeneuve, Tiffany Gaudin, Helena Brandstrom, Allon Beck ...Show all 20 authors... , Andrei Verner, Jade Kingsley, Eef Harmsen, Damian Labuda, Kenneth Morgan, Marie-Claude Vohl, Anna K. Naumova, Daniel Sinnett, Thomas James Hudson; Show fewer authors
A survey of genetic and epigenetic variation affecting human gene expression.
Physiol. Genomics 16:184-193(2004)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854
Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson, Ruth Epstein-Baak, Nikolina Babic, Maria P. Bettinotti, Arlene M. Buller-Burckle, Kenneth G. Butz, Matthew Campbell, Chris Civalier, Abdalla El-Badry ...Show all 29 authors... , Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason McKinney, Kasinathan Muralidharan, LeAnne Noll, Tara Sander, Junaid Shabbeer, Ching-Ying Huang Smith, Milhan Telatar, Lorraine H. Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang-Teck J. Yeo, Markus Zeller, Lisa V. Kalman; Show fewer authors
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753
Maria P. Bettinotti, Deborah Ferriola, Jamie L. Duke, Timothy L. Mosbruger, Nikolaos Tairis, Lawrence Jennings, Lisa V. Kalman, Dimitrios S. Monos;
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)