Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E282*
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RB1

NM_000321.3:p.E282*

Associated Papers

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 2021

DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter.

Raizis AM et al.

Epigenetics, 2021

Role of genetic testing in retinoblastoma management at a tertiary referral centre.

Pradhan MA et al.

Clinical & Experimental Ophthalmology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."