Associated Papers
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.
Khorrami M et al.
Iranian Journal of Child Neurology, 2019
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
Tabatabaiefar MA et al.
Journal of the Neurological Sciences, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Mitui M et al.
Human Mutation, 2003
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