Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Y813*
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RB1

NM_000321.3:p.Y813*

Associated Papers

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Retinoblastoma from human stem cell-derived retinal organoids.

Norrie JL et al.

Nature Communications, 2021

34315877 (PubMed )
Supplement: 41467_2021_24781_MOESM7_ESM.xlsx › Germline_RB1_mutations

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component.

Suzuki M et al.

Translational Lung Cancer Research, 2021

33889510 (PubMed )
Supplement: tlcr-10-03-1292-supplementary.pdf

Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Nguyen HH et al.

Molecular Vision, 2018

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

Richter S et al.

American Journal of Human Genetics, 2003

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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."