• Mutation; HGNC; HGNC:756; ASPA; Simple; p.Glu285Ala (c.854A>C); ClinVar=VCV000002605; Zygosity=Homozygous (PubMed=19815695; PubMed=33304759).
  

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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