Associated Papers
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
39317201 (PubMed )
Supplement: mmc6.pdf
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
Jacquemin V et al.
European Journal of Human Genetics : Ejhg, 2012
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