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

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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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PubMed=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
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Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
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