• 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).
  

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CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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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)

PubMed=8808599; PMCID=PMC1914811
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, Patrick Concannon;
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
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
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
Aaron A. Goodarzi, Ya-Ping Yu, Enriqueta Riballo, Pauline Douglas, Sarah A. Walker, Rui-Qiong Ye, Christine Harer, Caterina Marchetti, Nick Morrice, Penelope Ann Jeggo, Susan P. Lees-Miller;
DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
EMBO J. 25:3880-3889(2006)

PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013; PMCID=PMC3798780
Li-Wen Zhang, Dennis A. Simpson, Cynthia L. Innes, Jeff Chou, Pierre R. Bushel, Richard S. Paules, William K. Kaufmann, Tong Zhou;
Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.
Physiol. Genomics 45:907-916(2013)