Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q383*
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RB1

NM_000321.3:p.Q383*

Associated Papers

Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.

Faranoush M et al.

Cancer Medicine, 2025

Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients.

Zhang Y et al.

Ophthalmic Genetics, 2022

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

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Shukla N et al.

Nature Communications, 2022

35585047 (PubMed )
Supplement: 41467_2022_30233_MOESM7_ESM.xlsx › Supplementary_Data_4

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Harms PW et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34593967 (PubMed )
Supplement: NIHMS1739265-supplement-Supplemental_Tables.xlsx › S4-focused

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

34284772 (PubMed )
Supplement: 12920_2021_1030_MOESM2_ESM.xlsx › Annex_2

Downregulation of Cell Cycle and Checkpoint Genes by Class I HDAC Inhibitors Limits Synergism with G2/M Checkpoint Inhibitor MK-1775 in Bladder Cancer Cells.

Hoffmann MJ et al.

Genes, 2021

33670166 (PubMed )
Supplement: genes-12-00260-s001.zip › Supplementary › supp_Tables › Table_S2_Mutations_in_UCC.xlsx › RB1

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Xie Y et al.

Risk Management and Healthcare Policy, 2021

Genetic screening in Iranian patients with retinoblastoma.

Shahraki K et al.

Eye (london, England), 2017

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma.

Ottaviani D et al.

Ophthalmic Genetics, 2013

RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Dommering CJ et al.

Familial Cancer, 2012

New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

Kontic M et al.

Journal of Human Genetics, 2006

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."