• Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM02455).
  
• Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Arg482His (c.1445G>A); ClinVar=VCV000000932; Zygosity=Heterozygous (Coriell=GM02455).
  

CLPUB00447
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=21418647; DOI=10.1186/gb-2011-12-3-r25; PMCID=PMC3129675
Morcos L., Ge B., Koka V., Lam K.C.L., Pokholok D.K., Gunderson K.L., Montpetit A., Verlaan D.J., Pastinen T.
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Genome Biol. 12:R25.1-R25.14(2011)

PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Adoue V., Schiavi A., Light N., Almlof J.C., Lundmark P., Ge B., Kwan T., Caron M., Ronnblom L., Wang C., Chen S.-H., Goodall A.H., Cambien F., Deloukas P., Ouwehand W.H., Syvanen A.-C., Pastinen T.
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)