Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.K378R
Back to variants list

NLGN4X

NM_181332.3:p.K378R

Associated Papers

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

Lehr AW et al.

Genes, 2024

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

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.

Kopp N et al.

American Journal of Medical Genetics. Part A, 2021

The neuroligins and the synaptic pathway in Autism Spectrum Disorder.

Trobiani L et al.

Neuroscience and Biobehavioral Reviews, 2020

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

Yumoto T et al.

Molecular Autism, 2020

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

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

Schepici G et al.

Brain Sciences, 2019

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K et al.

Psychiatric Genetics, 2013

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K et al.

Autism Research and Treatment, 2012

A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.

Pampanos A et al.

Genetic Testing and Molecular Biomarkers, 2009

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

Lintas C et al.

Journal of Medical Genetics, 2009

Synaptic arrangement of the neuroligin/beta-neurexin complex revealed by X-ray and neutron scattering.

Comoletti D et al.

Structure (london, England : 1993), 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."