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Article

Allelic contribution of Nrxn1α to autism-relevant behavioral phenotypes in mice.

PLoS genetics - 1 Feb 2023

Xu Bing, Ho Yugong, Fasolino Maria, Medina Joanna, O'Brien William Timothy, Lamonica Janine M, Nugent Erin, Brodkin Edward S, Fuccillo Marc V, Bucan Maja, Zhou Zhaolan

Abstract excerpt

Copy number variations (CNVs) in the Neurexin 1 (NRXN1) gene, which encodes a presynaptic protein involved in neurotransmitter release, are some of the most frequently observed single-gene variants associated with autism spectrum disorder (ASD). To address the functional contribution of NRXN1 CNVs to behavioral phenotypes relevant to ASD, we carried out systematic behavioral phenotyping of an allelic series of...

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PMID: 36848371
DOI: 10.1371/journal.pgen.1010659
PMCID: PMC9997995

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