Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.R101Q
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NLGN4X

NM_181332.3:p.R101Q

Associated Papers

Does Altered Membrane Glycosylation Contribute to Neurodevelopmental Dysfunction in Autism Spectrum Disorder?

Osterne VJS et al.

Membranes, 2026

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways.

D'Mello SR

Neurology International, 2025

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

Lehr AW et al.

Genes, 2024

Multiple N-linked glycosylation sites critically modulate the synaptic abundance of neuroligin isoforms.

Benner O et al.

The Journal of Biological Chemistry, 2023

Glycosylation and behavioral symptoms in neurological disorders.

Pradeep P et al.

Translational Psychiatry, 2023

The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions.

Niescier RF et al.

Neuroscience, 2021

An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons.

Cast TP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

The neuroligins and the synaptic pathway in Autism Spectrum Disorder.

Trobiani L et al.

Neuroscience and Biobehavioral Reviews, 2020

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y.

Nguyen TA et al.

Neuron, 2020

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

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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."