Associated Papers
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Fortuno C et al.
Genome Medicine, 2025
41126324 (PubMed )
Supplement: 13073_2025_1536_MOESM1_ESM.xlsx › Table_S1
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.
Fedorova D et al.
Pediatric Blood & Cancer, 2022
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