Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.R2292C
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RELN

NM_005045.4:p.R2292C

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2

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

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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."