Varaico: Literature-Extracted Genetic Variants

Gene:BCORL1
Variant:p.R1090P
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BCORL1

NM_001379451.1:p.R1090P

Associated Papers

H2A monoubiquitination: insights from human genetics and animal models.

Ryan CW et al.

Human Genetics, 2024

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.

Gafner M et al.

Journal of Human Genetics, 2022

Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Jiang YH et al.

Critical Reviews in Clinical Laboratory Sciences, 2014

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH et al.

American Journal of Human Genetics, 2013

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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."