• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=10864201).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln2762Alafs*6 (c.8283_8284delTC); ClinVar=VCV000482713; Zygosity=Heterozygous (PubMed=10864201).
  

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260
Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E., Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L., Pierotti M.A., Chessa L.
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Br. J. Cancer 82:1938-1945(2000)

PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., Lulli P., De Luca A., Dallapiccola B., Chessa L.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)

PubMed=25942615; DOI=10.1016/j.mrfmmm.2015.04.009
Meschini R., Morucci E., Berni A., Lopez-Martinez W., Palitti F.
Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia.
Mutat. Res. 777:52-59(2015)