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Article

A comprehensive genotype-phenotype study in 203 individuals with retinoblastoma.

Experimental eye research - 1 Nov 2024

Lee Yoo Jin, Kim Jeong Hun, Lee Sang-Yeon, Jo Dong Hyun

Abstract excerpt

Retinoblastoma is the most common intraocular tumor in children and is caused by biallelic inactivation of the RB1 gene. The identification of RB1 germline variants in patients with retinoblastoma and their families is critical for early diagnosis and prevention. In this study, genetic testing was conducted on the genomic DNA of 203 patients with retinoblastoma using a combined approach of direct sequencing and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39303840
DOI: 10.1016/j.exer.2024.110102

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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