Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R579fs
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RB1

NM_000321.3:p.R579fs

Associated Papers

Genetics in ophthalmology: molecular blueprints of retinoblastoma.

Marković L et al.

Human Genomics, 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

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S et al.

Plos One, 2017

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