Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E322*
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RB1

NM_000321.3:p.E322*

Associated Papers

Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.

Gao C et al.

Jama Ophthalmology, 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

ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Moreno T et al.

Oncogene, 2021

33742126 (PubMed )
Supplement: EMS118565-supplement-Suppl__Table_3.xlsx › Original_screenig

Next-Generation Sequencing of Synchronous Multiple Primary Lung Cancers in a Patient with Squamous Cell Carcinoma and Small Cell Lung Cancer.

Wu X et al.

Oncotargets and Therapy, 2020

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.

Moens LN et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Genotype-phenotype correlations in hereditary familial retinoblastoma.

Taylor M et al.

Human Mutation, 2007

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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."