Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.R2290H
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RELN

NM_005045.4:p.R2290H

Associated Papers

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Di Donato N et al.

Brain : a Journal of Neurology, 2022

Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.

Dazzo E et al.

Human Molecular Genetics, 2022

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights.

Scala M et al.

Frontiers in Genetics, 2022

Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.

Schepici G et al.

Brain Sciences, 2019

The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.

Lammert DB et al.

Journal of Neurochemistry, 2017

RELN Mutations in Autism Spectrum Disorder.

Lammert DB et al.

Frontiers in Cellular Neuroscience, 2016

An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal.

Dutta S et al.

Cellular and Molecular Neurobiology, 2011

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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."