Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.L676*
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RB1

NM_000321.3:p.L676*

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Inhibition of Aberrantly Overexpressed Polo-like Kinase 4 Is a Potential Effective Treatment for DNA Damage Repair-Deficient Uterine Leiomyosarcoma.

Lee HHY et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38848043 (PubMed )
Supplement: ccr-23-3720_supplementary_data_s1_suppsd1.xlsx › Small_Variants

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S3

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

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S et al.

American Journal of Human Genetics, 2003

TP53, ATRX alterations, and low tumor mutation load feature IDH-wildtype giant cell glioblastoma despite exceptional ultra-mutated tumors.

Cantero D et al.

Neuro-oncology Advances, 0

32642724 (PubMed )
Supplement: vdz059_suppl_suplementary_table_2.xlsx › Supplementary_Table_2
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