Varaico: Literature-Extracted Genetic Variants

Gene:NLGN2
Variant:p.R215H
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NLGN2

NM_020795.4:p.R215H

Associated Papers

Analyses of Human Genetic Data to Identify Clinically Relevant Domains of Neuroligins.

Lehr AW et al.

Genes, 2024

The synaptic hypothesis of schizophrenia version III: a master mechanism.

Howes OD et al.

Molecular Psychiatry, 2023

Using structural analysis to clarify the impact of single nucleotide variants in neurexin/neuroligin revealed in clinical genomic sequencing.

Xue K et al.

Journal of Biomolecular Structure & Dynamics, 2022

A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder.

Purushotham SS et al.

Experimental Brain Research, 2022

Imaging neural circuit pathology of autism spectrum disorders: autism-associated genes, animal models and the application of in vivo two-photon imaging.

Terashima H et al.

Microscopy (oxford, England), 2022

GABAergic System Dysfunction in Autism Spectrum Disorders.

Zhao H et al.

Frontiers in Cell and Developmental Biology, 2021

Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms.

Yumoto T et al.

Molecular Autism, 2020

GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation.

Jiang DY et al.

Molecular Brain, 2018

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Parente DJ et al.

American Journal of Medical Genetics. Part A, 2017

Neuroligin 2 R215H Mutant Mice Manifest Anxiety, Increased Prepulse Inhibition, and Impaired Spatial Learning and Memory.

Chen CH et al.

Frontiers in Psychiatry, 2017

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.

Sun C et al.

Human Molecular Genetics, 2011

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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."