• Mutation; HGNC; 795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03189).
  
• Mutation; 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
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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.
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PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
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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)