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Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

Ophthalmic genetics - 1 Dec 2025

Ratna Ria, Varshney Akhil, Tibrewal Shailja, Verma Aman, Majumdar Atanu, Das Sima

Abstract excerpt

Retinoblastoma is a pediatric ocular malignancy caused by biallelic inactivation of the RB1 gene, with genetic testing crucial for determining heritability. This retrospective observational study analyzed the genotypic and phenotypic profiles of 200 RB patients from North India who underwent genetic testing at a tertiary eye hospital between January 2022 and April 2024. Targeted RB1 gene analysis was performed...

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Identifiers

PMID: 40534329
DOI: 10.1080/13816810.2025.2518136

Genes

RB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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