Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R798fs
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RB1

NM_000321.3:p.R798fs

Associated Papers

Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.

Gao C et al.

Jama Ophthalmology, 2025

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Pan-cancer molecular analysis of EGFR large fragment deletion in the Asian population.

Pu J et al.

Cancer Medicine, 2023

36622089 (PubMed )
Supplement: CAM4-12-8083-s002.xlsx › Sheet1

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

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
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