Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N258fs
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RB1

NM_000321.3:p.N258fs

Associated Papers

Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma.

Williams EA et al.

The American Journal of Surgical Pathology, 2024

Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.

Lawrence-Paul MR et al.

Genome Medicine, 2024

38321573 (PubMed )
Supplement: 13073_2024_1293_MOESM2_ESM.xlsx › MetSpec_WES_mutations

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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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."