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Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.

Neurobiology of disease - 1 Jul 2012

Camacho-Garcia Rafael J, Planelles Maria Inmaculada, Margalef Mar, Pecero Maria L, Martínez-Leal Rafael, Aguilera Francisco, Vilella Elisabet, Martinez-Mir Amalia, Scholl Francisco G

Abstract excerpt

The identification of mutations in genes encoding proteins of the synaptic neurexin-neuroligin pathway in different neurodevelopmental disorders, including autism and mental retardation, has suggested the presence of a shared underlying mechanism. A few mutations have been described so far and fo...

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PMID: 22504536
DOI: 10.1016/j.nbd.2012.03.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22504536-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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