Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.V1762I
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RELN

NM_005045.4:p.V1762I

Associated Papers

Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.

Lopera F et al.

Nature Medicine, 2023

37188781 (PubMed )
Supplement: 41591_2023_2318_MOESM1_ESM.pdf

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

Scala M et al.

Frontiers in Genetics, 2022

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Scimone C et al.

International Journal of Molecular Sciences, 2020

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

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

Schepici G et al.

Brain Sciences, 2019

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 820.316

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

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

Bacchelli E et al.

Molecular Psychiatry, 2003

Analysis of reelin as a candidate gene for autism.

Bonora E et al.

Molecular Psychiatry, 2003

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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."