• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys1550Argfs*13 (c.4649delA); Zygosity=Heterozygous (PubMed=9600235).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Ile2629Serfs*24 (c.7881_7885TATTA[1]) (c.7883_7887delTTATA); ClinVar=VCV000230200; Zygosity=Heterozygous (PubMed=9600235).
  

PubMed=1978855; DOI=10.1080/09553009014552301
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Establishment of a novel immortalized cell line from ataxia telangiectasia fibroblasts and its use for the chromosomal assignment of radiosensitivity gene.
Int. J. Radiat. Biol. 58:989-997(1990)

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PubMed=9600235; DOI=10.1007/s004390050712
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Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.
Hum. Genet. 102:403-408(1998)

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J. Biol. Chem. 279:2030-2037(2004)