• Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03189).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03189).
  

PubMed=6173245; DOI=10.1016/0014-4827(82)90040-4
Kohn P.H., Kraemer K.H., Buchanan J.K.
Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines.
Exp. Cell Res. 137:387-395(1982)

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=8808599; PMCID=PMC1914811
Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P.
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

PubMed=16874298; DOI=10.1038/sj.emboj.7601255; PMCID=PMC1553186
Goodarzi A.A., Yu Y.-P., Riballo E., Douglas P., Walker S.A., Ye R.-Q., Harer C., Marchetti C., Morrice N., Jeggo P.A., Lees-Miller S.P.
DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
EMBO J. 25:3880-3889(2006)

PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013; PMCID=PMC3798780
Zhang L.-W., Simpson D.A., Innes C.L., Chou J., Bushel P.R., Paules R.S., Kaufmann W.K., Zhou T.
Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.
Physiol. Genomics 45:907-916(2013)