Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation

BACKGROUND: The endoplasmic reticulum-membrane protein complex (EMC) as a molecular chaperone is required for the proper synthesis, folding and traffic of several transmembrane proteins. Variants in the subunit 1 of EMC (EMC1) have been implicated in neurodevelopmental disorders. METHODS: Whole exom...

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Detalles Bibliográficos
Autores principales: Wang, Ge, Wang, Yanli, Gao, Chao, Xie, Wanqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175691/
https://www.ncbi.nlm.nih.gov/pubmed/37187958
http://dx.doi.org/10.3389/fnmol.2023.1153156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10175691/
https://www.ncbi.nlm.nih.gov/pubmed/37187958
http://dx.doi.org/10.3389/fnmol.2023.1153156

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