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Article

Copy number variants in neurexin genes: phenotypes and mechanisms.

Current opinion in genetics & development - 1 Jun 2021

Fuccillo Marc V, Pak ChangHui

Abstract excerpt

Neurexins are central to trans-synaptic cell adhesion and signaling during synapse specification and maintenance. The past two decades of human genetics research have identified structural variations in the neurexin gene family, in particular NRXN1 copy number variants (CNVs), implicated in multiple neuropsychiatric and developmental disorders. The heterogeneity and reduced penetrance of NRXN1 deletions, in...

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Identifiers

PMID: 33756113
DOI: 10.1016/j.gde.2021.02.010
PMCID: PMC8491281

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