Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R830Splc
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RB1

NM_000321.3:p.R830Splc

Associated Papers

Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused by RB1 gene mutation: a case series.

Fu Z et al.

American Journal of Cancer Research, 2025

Ovarian squamous cell carcinoma associated with teratoma: a report of six cases with genomic analysis.

Liang Y et al.

Pathology, 2023

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

Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.

Barbosa RH et al.

Investigative Ophthalmology & Visual Science, 2013

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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."