Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E287_V288Splc
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RB1

NM_000321.3:p.E287_V288Splc

Associated Papers

Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis.

Muniroh M et al.

Scientific Reports, 2025

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

Unusual Presentation of Advanced Urothelial Cancer in a Young Patient.

Guevara D et al.

Anticancer Research, 2025

On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.

Tompa M et al.

International Journal of Molecular Sciences, 2024

39062807 (PubMed )
Supplement: ijms-25-07564-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S3

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

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

Polyclonal RB1 mutations and acquired resistance to CDK 4/6 inhibitors in patients with metastatic breast cancer.

Condorelli R et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2018

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx
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