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De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity

Here we report de novo non-synonymous single-nucleotide variants (SNVs) by conducting whole exome sequencing of 18 trios consisting of Japanese patients with sporadic schizophrenia and their parents. Among nine SNVs, we explored the functional impact of the de novo mutation in TBL1XR1 [c.30 C > G...

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Detalles Bibliográficos
Autores principales: Nishi, Akira, Numata, Shusuke, Tajima, Atsushi, Zhu, Xiaolei, Ito, Koki, Saito, Atsushi, Kato, Yusuke, Kinoshita, Makoto, Shimodera, Shinji, Ono, Shinji, Ochi, Shinichiro, Imamura, Akira, Kurotaki, Naohiro, Ueno, Shu-ichi, Iwata, Nakao, Fukui, Kiyoshi, Imoto, Issei, Kamiya, Atsushi, Ohmori, Tetsuro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460159/
https://www.ncbi.nlm.nih.gov/pubmed/28588275
http://dx.doi.org/10.1038/s41598-017-02792-z