Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.P777insFs
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RB1

NM_000321.3:p.P777insFs

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

Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress.

Berry JL et al.

American Journal of Ophthalmology, 2024

The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma.

Muniyandi A et al.

Investigative Ophthalmology & Visual Science, 2024

Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma.

Nakamichi K et al.

Ophthalmic Genetics, 2022

Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.

Sirivolu S et al.

Ophthalmic Genetics, 2022

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Yuan T et al.

Frontiers in Oncology, 2021

34168983 (PubMed )
Supplement: DataSheet_2.xlsx › Tab_S3.clean_report

A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients.

Thirumalairaj K et al.

Journal of Human Genetics, 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."