• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=10864201; PubMed=12105990).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln2762Alafs*6 (c.8283_8284delTC); ClinVar=VCV000482713; Zygosity=Heterozygous (PubMed=10864201; PubMed=12105990).
  

PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260
Domenico Delia, Shuki Mizutani, Silvia Panigone, Elda Tagliabue, Enrico Fontanella, Minoru Asada, Takayuki Yamada, Yoichi Taya, Sabrina Prudente, Silvia Saviozzi, Luigi Frati ...Show all 13 authors... , Marco Alessandro Pierotti, Luciana Chessa; Show fewer authors
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
Rika Tsuchida, Takayuki Yamada, Masatoshi Takagi, Akira Shimada, Chikashi Ishioka, Yoko Katsuki, Takashi Igarashi, Luciana Chessa, Domenico Delia, Hirobumi Teraoka, Shuki Mizutani;
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)