Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N316_L317delFs
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RB1

NM_000321.3:p.N316_L317delFs

Associated Papers

Intragenic EGFR::EGFR.E1E8 Fusion (EGFRvIII) in 4331 Solid Tumors.

Zheng L et al.

Cancers, 2023

38201434 (PubMed )
Supplement: cancers-16-00006-s001.zip › cancers-2545478-supplementary.pdf

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

Diffuse Gliomas of the Brainstem and Cerebellum in Adults Show Molecular Heterogeneity.

Eschbacher KL et al.

The American Journal of Surgical Pathology, 2021

Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Abramson DH et al.

Ophthalmology Science, 2021

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S et al.

Plos One, 2017

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Blomquist MR et al.

Neuro-oncology Advances, 0

32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_9.xlsx › SomaticMutations
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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."