• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp2638Ter (c.7913G>A); ClinVar=VCV000141233; Zygosity=Heterozygous (Coriell=GM03382).
  

CLPUB00447
Mulivor R.A., Suchy S.F.
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(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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