Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R579fs
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RB1

NM_000321.3:p.R579fs

Associated Papers

Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.

Al Assaad M et al.

Communications Medicine, 2026

RB1 gene inactivation by chromothripsis in human retinoblastoma.

McEvoy J et al.

Oncotarget, 2014

24509483 (PubMed )
Supplement: oncotarget-05-438-s002.xlsx › SJ_RB1_Custom_Capture

Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations.

Macías M et al.

Cancer Biomarkers : Section a of Disease Markers, 2008

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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."