Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.R1742W
Back to variants list

RELN

NM_005045.4:p.R1742W

Associated Papers

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."