• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Heterozygous (PubMed=9497252; PubMed=10864201; PubMed=12105990).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp1858Ter (c.5574G>A); ClinVar=VCV001380184; Zygosity=Heterozygous (PubMed=9497252; PubMed=10864201; PubMed=12105990).
  

PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949
Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M., Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A.
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
Am. J. Hum. Genet. 62:551-561(1998)

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=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2
Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y., Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast.
Radiat. Res. 158:195-201(2002)