Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S474I
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RB1

NM_000321.3:p.S474I

Associated Papers

Pediatric therapy-related hematologic neoplasms show enrichment for KMT2A rearrangement and lymphoblastic phenotype.

Kovach AE et al.

Leukemia & Lymphoma, 2024

39116419 (PubMed )
Supplement: supplement_1.zip › Supplementary_files › Supp_Table_7.xlsx › Suppl_Table_7

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

Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Franceschi S et al.

Cancers, 2021

Tumorspheres but not adherent cells derived from retinoblastoma tumors are of malignant origin.

Bond WS et al.

Plos One, 2013

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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."