Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R540Q
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BCOR

NM_001123385.2:p.R540Q

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

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

X-linked BCOR variants identified in Chinese Han patients with congenital heart disease.

Suo MJ et al.

The Journal of Gene Medicine, 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

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

Archer NE et al.

Clinical Dysmorphology, 2021

OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.

Hamline MY et al.

Developmental Biology, 2020

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

Ragge N et al.

Human Genetics, 2019

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Kraus C et al.

American Journal of Medical Genetics. Part A, 2018

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

Zhang DD et al.

Genetics and Molecular Research : Gmr, 2016

Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

Zhu X et al.

Gene, 2015

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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."