Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S249*
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RB1

NM_000321.3:p.S249*

Associated Papers

Determinants of sensitivity to HER2-targeted antibody drug conjugates in urothelial cancer.

Chen Z et al.

Nature Communications, 2025

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

Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.

Prieto-Potin I et al.

Diagnostics (basel, Switzerland), 2022

36010253 (PubMed )
Supplement: diagnostics-12-01903-s001.zip › Table_S3._OCA_v3_RAW_DATA.xlsx › GENERAL

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_8

Genomic portfolio of Merkel cell carcinoma as determined by comprehensive genomic profiling: implications for targeted therapeutics.

Cohen PR et al.

Oncotarget, 2016

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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."