Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S565*
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RB1

NM_000321.3:p.S565*

Associated Papers

THE BLOOM SYNDROME AND RETINOBLASTOMA PATIENT EXHIBITS TWO RB1 GENE MUTATIONS IN THE GERMLINE.

Rangel-Charqueño M et al.

Retinal Cases & Brief Reports, 2026

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

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

Genomic Signature of Oral Squamous Cell Carcinomas from Non-Smoking Non-Drinking Patients.

Koo K et al.

Cancers, 2021

33804510 (PubMed )
Supplement: cancers-13-01029-s001.zip › Supplementary_Data.xlsx › Somatic_mutations

Genomic Instability Signature of Palindromic Non-Coding Somatic Mutations in Bladder Cancer.

Vacher S et al.

Cancers, 2020

33049910 (PubMed )
Supplement: cancers-12-02882-s001.zip › cancers-960774-Supplementary_materials.pdf

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S1.2_Overall_SNV_small_indels
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