Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E31*
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RB1

NM_000321.3:p.E31*

Associated Papers

Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.

Gomez-Mariano G et al.

Experimental Eye Research, 2025

Retinoblastoma Expression and Targeting by CDK4/6 Inhibitors in Small Cell Lung Cancer.

Wildey G et al.

Molecular Cancer Therapeutics, 2023

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

Escudero A et al.

International Journal of Clinical Oncology, 2022

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Conroy JM et al.

Plos One, 2021

34855780 (PubMed )
Supplement: pone.0260089.s001.xlsx › ST12
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