Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.N1159K
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RELN

NM_005045.4:p.N1159K

Associated Papers

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Guijarro F et al.

Blood Advances, 2023

37450374 (PubMed )
Supplement: BLOODA_ADV-2023-009742-mmc2.xlsx › 20220406_291_germline_paired_gn

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Al Anazi AH et al.

Human Genomics, 2022

36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants

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

Scala M et al.

Frontiers in Genetics, 2022

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA

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

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 › 1535.548

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

Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.

Sheth H et al.

Neurology India, 0

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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."