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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Although genetic variations in several genes encoding for synaptic adhesion proteins have been found to be associated with autism spectrum disorders, one of the most consistently replicated genes has been CNTNAP2, encoding for contactin-associated protein-like 2 (CASPR2), a multidomain transmembrane...

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Detalhes bibliográficos
Main Authors: Falivelli, Giulia, De Jaco, Antonella, Favaloro, Flores Lietta, Kim, Hyuck, Wilson, Jennifer, Dubi, Noga, Ellisman, Mark H., Abrahams, Brett S., Taylor, Palmer, Comoletti, Davide
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3471401/
https://ncbi.nlm.nih.gov/pubmed/22872700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds320
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