Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E287_V288Splc
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RB1

NM_000321.3:p.E287_V288Splc

Associated Papers

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma.

He GQ et al.

Frontiers in Oncology, 2025

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Price EA et al.

Ophthalmic Genetics, 2024

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