Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R830Splc
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RB1

NM_000321.3:p.R830Splc

Associated Papers

RNA Splicing Aberrations in Hereditary Cancer: Insights from Turkish Patients.

Kilic S et al.

Current Issues in Molecular Biology, 2024

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

Genetic and histologic spatiotemporal evolution of recurrent, multifocal, multicentric and metastatic glioblastoma.

Georgescu MM et al.

Acta Neuropathologica Communications, 2020

Role of genetic testing in retinoblastoma management at a tertiary referral centre.

Pradhan MA et al.

Clinical & Experimental Ophthalmology, 2010

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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."