Associated Papers
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Tesi B et al.
The Lancet Regional Health. Europe, 2024
38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_3
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.
Imperatore V et al.
European Journal of Human Genetics : Ejhg, 2018
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations.
Sampieri K et al.
Journal of Human Genetics, 2006
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