Associated Papers
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants
Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.
Meier M et al.
Leukemia, 2005
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
Birrell GW et al.
Human Mutation, 2005
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