Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S463_E464Splc
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RB1

NM_000321.3:p.S463_E464Splc

Associated Papers

[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].

Ducatelli ME et al.

Medicina, 2026

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

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

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Desmet FO et al.

Nucleic Acids Research, 2009

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

Alonso J et al.

Human Mutation, 2001

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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."