Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E817*
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RB1

NM_000321.3:p.E817*

Associated Papers

SDH mutations, as potential predictor of chemotherapy prognosis in small cell lung cancer patients.

Zeng R et al.

Discover Oncology, 2023

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

Genetic testing and prognosis of sarcomatoid hepatocellular carcinoma patients.

Jia B et al.

Frontiers in Oncology, 2022

36741696 (PubMed )
Supplement: DataSheet_1.zip › Supplemental_Table_S2.xlsx › Sheet1

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.

Brichard B et al.

European Journal of Cancer (oxford, England : 1990), 2006

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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."