Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.K130*
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RB1

NM_000321.3:p.K130*

Associated Papers

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

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Yuan T et al.

Frontiers in Oncology, 2021

34168983 (PubMed )
Supplement: DataSheet_2.xlsx › Tab_S3.clean_report

Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.

Madsen MB et al.

Frontiers in Endocrinology, 2020

32265839 (PubMed )
Supplement: Table_1.pdf
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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."