Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N258fs
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RB1

NM_000321.3:p.N258fs

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

Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma: A case report.

Yang YC et al.

World Journal of Gastrointestinal Oncology, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

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 › Bilat__germline__n__938

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

Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Abramson DH et al.

Ophthalmology Science, 2021

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Xie Y et al.

Risk Management and Healthcare Policy, 2021

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Kalsoom S et al.

Molecular Vision, 2015

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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."