Article

Genome-wide investigation of rare germline copy-number variants in retinoblastoma

2024-11-20

Abstract excerpt

Approximately 8,000 children are diagnosed with retinoblastoma (Rb) globally each year, and the rate of survival as well as prognosis can differ greatly based on access to quality screening and treatment. Over 90% of patients with the inherited bilateral form of Rb have germline variants RB1 , whereas approximately 20-30% of the unilateral form of Rb harbor germline variants in RB1 . In the following study, rare g...

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Literature Corpus work: 5cd6e400-786f-5944-b360-41b31cdfeb1d
DOI: 10.1101/2024.11.19.24316720

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