Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.R617W
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NLGN3

NM_181303.2:p.R617W

Associated Papers

Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study.

Gao W et al.

Actas Espanolas De Psiquiatria, 2025

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.

Oleari R et al.

Disease Models & Mechanisms, 2023

Expression and structural analysis of human neuroligin 2 and neuroligin 3 implicated in autism spectrum disorders.

Zhang Z et al.

Frontiers in Endocrinology, 2022

Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism.

Hegde R et al.

Genomics & Informatics, 2021

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.

Nguyen TA et al.

Frontiers in Synaptic Neuroscience, 2020

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Quartier A et al.

Human Mutation, 2019

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

Schepici G et al.

Brain Sciences, 2019

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

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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."