High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (SYTL4) gene (Xq22.1; c.835C>T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (TMEM187) gene (Xq28; c.708G&...

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Detalles Bibliográficos
Autores principales: Rafi, Syed K., Fernández-Jaén, Alberto, Álvarez, Sara, Nadeau, Owen W., Butler, Merlin G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651166/
https://www.ncbi.nlm.nih.gov/pubmed/31323913
http://dx.doi.org/10.3390/ijms20133358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651166/
https://www.ncbi.nlm.nih.gov/pubmed/31323913
http://dx.doi.org/10.3390/ijms20133358

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