• Mutation; HGNC; HGNC:4982; HMBS; Simple; p.Arg195Cys (c.583C>T); ClinVar=VCV000161251; Zygosity=Heterozygous (Coriell=GM00939).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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=25326100; DOI=10.15252/msb.20145114; PMCID=PMC4299376
Veronique Adoue, Alicia Schiavi, Nicholas Light, Jonas Carlsson Almlof, Per Lundmark, Bing Ge, Tony Kwan, Maxime Caron, Lars Ronnblom, Chuan Wang, Shu-Huang Chen ...Show all 17 authors... , Alison H. Goodall, Francois Cambien, Panos Deloukas, Willem Hendrik Ouwehand, Ann-Christine Syvanen, Tomi Pastinen; Show fewer authors
Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.
Mol. Syst. Biol. 10:754-754(2014)