Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q344*
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RB1

NM_000321.3:p.Q344*

Associated Papers

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.

Gerrish A et al.

Cancers, 2024

38672657 (PubMed )
Supplement: cancers-16-01565-s001.zip › cancers-2920790-supplementary_Table_S1_-_AG_editb.xlsx › Supp_Table_S1

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

Retrospective Evaluation of Somatic Alterations in Cell-Free DNA from Blood in Retinoblastoma.

Abramson DH et al.

Ophthalmology Science, 2021

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Razavi P et al.

Nature Medicine, 2019

31768066 (PubMed )
Supplement: NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx › Fig_1e

[Application of gene capture technology on mutation screening of RB1 gene in retinoblastoma patients].

Meng QY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2017

Genetic screening in Iranian patients with retinoblastoma.

Shahraki K et al.

Eye (london, England), 2017

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

Li WL et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Circulating Cell-Free Tumor DNA Analysis of 50 Genes by Next-Generation Sequencing in the Prospective MOSCATO Trial.

Jovelet C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

26758560 (PubMed )
Supplement: 10780432ccr152470-sup-156650_1_supp_3254814_ny79rd.xlsx › AF_T-P

Mutational Analysis of BRAF Inhibitor-Associated Squamoproliferative Lesions.

Clynick B et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Balbás-Martínez C et al.

Nature Genetics, 2013

24121791 (PubMed )
Supplement: NIHMS525200-supplement-4.xlsx › Rel._mut_preval._screen__60_5_

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

Nichols KE et al.

Human Mutation, 2005

Exome-level comparison of primary well-differentiated neuroendocrine tumors and their cell lines.

Boora GK et al.

Cancer Genetics, 0

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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."