Varaico: Literature-Extracted Genetic Variants

Gene:NRXN1
Variant:p.L18Q
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NRXN1

NM_001330078.2:p.L18Q

Associated Papers

Insertion of rare autism variants in synaptic genes induce novel behavioral phenotypes in C. elegans.

Haskell D et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure.

Rhoades R et al.

Genes, 2022

35627176 (PubMed )
Supplement: genes-13-00789-s001.zip › genes-1673742-supplementary.pdf

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

Won H et al.

Frontiers in Molecular Neuroscience, 2013

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.

Wiśniowiecka-Kowalnik B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

Disruption of neurexin 1 associated with autism spectrum disorder.

Kim HG et al.

American Journal of Human Genetics, 2008

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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."