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Integrative Genomic Mapping and Visualization From Curated Public Datasets Reveals Germline RB1 Variant Diversity in Retinoblastoma.

Investigative ophthalmology & visual science - 1 Jul 2026

Rooks Elizabeth, Lee Matthew, Bhowmik Oieswarya, Hernandez-Lopez Viridiana, Stacey Andrew W, Mustafi Debarshi

Abstract excerpt

Purpose: To consolidate and refine RB1 disease-causing variants in retinoblastoma (RB) and to develop a visual, integrative tool for variant exploration at the gene and protein level. Methods: RB1 variants associated with RB were compiled from the Leiden Open Variation Database, 13 published cohort studies between 2014 and 2025, and the Catalogue of Somatic Mutations in Cancer. Case information was recovered...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42461076
DOI: 10.1167/iovs.67.8.40
PMCID: PMC13387271

Genes

RB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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