Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R355delFs
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RB1

NM_000321.3:p.R355delFs

Associated Papers

An overview of RB1 transcript alterations detected during retinoblastoma genetic screening.

Price EA et al.

Ophthalmic Genetics, 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

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A et al.

Frontiers in Oncology, 2021

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.

Zhang Z et al.

Bmc Medical Genetics, 2020

Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

Yousef YA et al.

Familial Cancer, 2018

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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."