Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S565_D566Splc
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RB1

NM_000321.3:p.S565_D566Splc

Associated Papers

A long-term glioblastoma survivor with Lynch syndrome: a case report of tumor molecular and microenvironment characterization.

Zhou Y et al.

Discover Oncology, 2025

40768092 (PubMed )
Supplement: 12672_2025_3361_MOESM1_ESM.xlsx › somatic

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Uni__germline__n__170

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma.

Hülsenbeck I et al.

Cancers, 2021

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf
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