ID AT79RM AC CVCL_XX53 SY Ataxia Telangiectasia 79 RoMa DR Wikidata; Q93326464 RX PubMed=17124347; CC Sequence variation: Mutation; HGNC; HGNC:795; ATM; Simple; c.2718_2721delGGCC; Zygosity=Heterozygous (PubMed=17124347). CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C2887; Ataxia telangiectasia syndrome DI ORDO; Orphanet_100; Ataxia telangiectasia OX NCBI_TaxID=9606; ! Homo sapiens (Human) CA Transformed cell line DT Created: 19-12-19; Last updated: 19-12-24; Version: 9 // RX PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285; RA Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., RA Lulli P., De Luca A., Dallapiccola B., Chessa L.; RT "DHPLC screening of ATM gene in Italian patients affected by RT ataxia-telangiectasia: fourteen novel ATM mutations."; RL Dis. Markers 22:257-264(2006). //