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Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

BACKGROUND: Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are relatively easier to interpret their effects on the gene product. Interpretation of...

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Detalles Bibliográficos
Autores principales: Ishizuka, Kanako, Yoshida, Tomoyuki, Kawabata, Takeshi, Imai, Ayako, Mori, Hisashi, Kimura, Hiroki, Inada, Toshiya, Okahisa, Yuko, Egawa, Jun, Usami, Masahide, Kushima, Itaru, Morikawa, Mako, Okada, Takashi, Ikeda, Masashi, Branko, Aleksic, Mori, Daisuke, Someya, Toshiyuki, Iwata, Nakao, Ozaki, Norio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496212/
https://www.ncbi.nlm.nih.gov/pubmed/32942984
http://dx.doi.org/10.1186/s11689-020-09325-2