• Mutation; HGNC; 4065; GAA; Simple; p.Met318Thr (c.953T>C); ClinVar=VCV000004021; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
  
• Mutation; HGNC; 4065; GAA; Simple; p.Arg854Ter (c.2560C>T); ClinVar=VCV000004034; Zygosity=Heterozygous (PubMed=1652892; Coriell=GM00244).
  

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PubMed=1652892; PMCID=PMC1683123
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Mulivor R.A., Suchy S.F.
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=11416159; DOI=10.1073/pnas.121616198; PMCID=PMC35459
Masters J.R.W., Thomson J.A., Daly-Burns B., Reid Y.A., Dirks W.G., Packer P., Toji L.H., Ohno T., Tanabe H., Arlett C.F., Kelland L.R., Harrison M., Virmani A.K., Ward T.H., Ayres K.L., Debenham P.G.
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PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005; PMCID=PMC4695224
Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U., Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R., Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.
Characterization of 137 genomic DNA reference materials for 28 pharmacogenetic genes: a GeT-RM collaborative project.
J. Mol. Diagn. 18:109-123(2016)