• Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
  
• Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (PubMed=19815695; PubMed=33304759).
  
• Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (Coriell=GM00059).
  

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)

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