• Mutation; HGNC; 1550; CBS; Simple; p.Gly307Ser (c.919G>A); ClinVar=VCV000000117; Zygosity=Heterozygous (PubMed=8528202).
  
• Mutation; HGNC; 1550; CBS; Simple; p.Val454Glu (c.1361T>A); ClinVar=VCV002138391; Zygosity=Heterozygous (PubMed=8528202).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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=8528202; DOI=10.1093/hmg/4.7.1155
Kruger W.D., Cox D.R.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Hum. Mol. Genet. 4:1155-1161(1995)