• Mutation; HGNC; 795; ATM; Simple; p.Arg2136Ter (c.6404_6405insTT) (p.Leu2135_Arg2136insTer) (6404insTT); ClinVar=VCV000220763; Zygosity=Heterozygous (Coriell=GM01525).
  

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Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

CLPUB00447
Mulivor R.A., Suchy S.F.
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PubMed=1561323; DOI=10.2307/3578485
Pandita T.K., Hittelman W.N.
Initial chromosome damage but not DNA damage is greater in ataxia telangiectasia cells.
Radiat. Res. 130:94-103(1992)

PubMed=7539412; DOI=10.1002/ijc.2910610524
Pandita T.K., Hittelman W.N.
Evidence of a chromatin basis for increased mutagen sensitivity associated with multiple primary malignancies of the head and neck.
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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.
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