• Mutation; HGNC; HGNC:795; ATM; Simple; p.Phe1774Lysfs*17 (c.5320_5326del) (c.5320del7); Zygosity=Heterozygous (PubMed=8845835).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp2769Ter (c.8307G>A); ClinVar=VCV000189104; Zygosity=Heterozygous (PubMed=8845835).
  

PubMed=2987007; DOI=10.1016/0014-4827(85)90437-9
John Patrick Murnane, Lloyd F. Fuller, Robert Blair Painter;
Establishment and characterization of a permanent pSV ori-transformed ataxia-telangiectasia cell line.
Exp. Cell Res. 158:119-126(1985)

PubMed=2903889; DOI=10.1080/09553008814552321
Colin Francis Arlett, Michael H.L. Green, Anne Priestley, Susan A. Harcourt, Lynne V. Mayne;
Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes.
Int. J. Radiat. Biol. 54:911-928(1988)

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik ...Show all 23 authors... , Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, Nicolaas G.J. Jaspers, Richard A. Gatti, Gilbert Marcel Lenoir, Martin Francis Lavin, Kouichi Tatsumi, Rolf-Dieter Wegner, Yosef Shiloh, Anat Bar-Shira; Show fewer authors
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)