Varaico: Literature-Extracted Genetic Variants

Gene:RELN
Variant:p.P672L
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RELN

NM_005045.4:p.P672L

Associated Papers

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 2025

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.

Blazekovic A et al.

Genes, 2022

36011376 (PubMed )
Supplement: genes-13-01466-s001.zip › genes-1800327-supplementary.pdf

Frequency of Specific Genes in Different Types of Epilepsy.

Duzkale N et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Rossetti R et al.

Frontiers in Endocrinology, 2021

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

Schepici G et al.

Brain Sciences, 2019

Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.

Balicza P et al.

Frontiers in Genetics, 2019

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › MA12_All

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.

Michelucci R et al.

Epilepsy & Behavior : E&b, 2017

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Dazzo E et al.

American Journal of Human Genetics, 2015

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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."