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HERVÁS , Amaia

Last name: HERVÁS

First name: Amaia

July 31, 2024 (v1)

Publication

Metadata-only

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses

Camacho García, Rafael J. Hervás, Amaia Toma, Claudio

Neurexins are synaptic plasma membrane proteins encoded by three genes (NRXN1, -2, -3) with alternative promoters. Mutations in neurexin genes have been identified in different neurodevelopmental disorders, including autism. Recently, two point mutations altering the translation initiation site of NRXN1β (c.−3G>T and c.3G>T) have been described...

Uploaded on: August 1, 2024