Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L335fs
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RB1

NM_000321.3:p.L335fs

Associated Papers

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.

Warner EW et al.

Nature Cancer, 2024

38177459 (PubMed )
Supplement: 43018_2023_692_MOESM11_ESM.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

Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand.

Rojanaporn D et al.

Molecular Vision, 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."