Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q689*
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RB1

NM_000321.3:p.Q689*

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction.

Hida T et al.

Pigment Cell & Melanoma Research, 2025

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.

Hida T et al.

Cancer Medicine, 2024

Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.

Meel R et al.

Indian Journal of Ophthalmology, 2024

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

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 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

Primary and secondary gliosarcomas: clinical, molecular and survival characteristics.

Cachia D et al.

Journal of Neuro-oncology, 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."