Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R810*
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BCOR

NM_001123385.2:p.R810*

Associated Papers

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.

Guijarro F et al.

International Journal of Molecular Sciences, 2024

39201354 (PubMed )
Supplement: ijms-25-08669-s001.zip › ijms-3087068-supplementary › Supplementary_Tables_S1-S5.xlsx › Table_S1

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Diagnosing familial platelet disorder with predisposition to myeloid malignancy: Lessons learned from a germline whole-gene deletion of RUNX1.

Cliburn JA et al.

International Journal of Laboratory Hematology, 2024

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Somatic_Mutations

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

Nguyen TT et al.

Journal of Medical Case Reports, 2024

[Oculo-facio-cardio-dental syndrome caused by BCOR gene mutations: a case report].

Lu YY et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report.

Hu Q et al.

Bmc Pediatrics, 2022

Dynamics of epigenetic regulator gene BCOR mutation and response predictive value for hypomethylating agents in patients with myelodysplastic syndrome.

Li X et al.

Clinical Epigenetics, 2021

X-linked BCOR-related syndrome in two male siblings.

Archer NE et al.

Clinical Dysmorphology, 2021

The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Atli EI et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2021

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › All_Calls

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Davies HR et al.

Nature Communications, 2019

31624251 (PubMed )
Supplement: 41467_2019_12746_MOESM1_ESM.pdf

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Ragge N et al.

Human Genetics, 2019

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Ibáñez M et al.

Plos One, 2018

30303964 (PubMed )
Supplement: pone.0202926.s006.pdf

Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Xu Y et al.

Oncotarget, 2017

29137279 (PubMed )
Supplement: oncotarget-08-82475-s003.xls › Sheet1

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

Feberwee HE et al.

Clinical Genetics, 2014

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

Hilton E et al.

European Journal of Human Genetics : Ejhg, 2009

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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."