Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

BACKGROUND: The AHNAK2 gene encodes a large nucleoprotein expressed in several tissues, including brain, squamous epithelia, smooth muscle, and neuropil. Its role in calcium signaling has been suggested and to date, clear evidence about its involvement in the pathogenesis of clinical disorders is st...

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Detalles Bibliográficos
Autores principales: Vinci, Mirella, Kursula, Petri, Greco, Donatella, Elia, Maurizio, Vetri, Luigi, Schepis, Carmelo, Chiavetta, Valeria, Donadio, Serena, Roccella, Michele, Carotenuto, Marco, Romano, Valentino, Calì, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482394/
https://www.ncbi.nlm.nih.gov/pubmed/35789128
http://dx.doi.org/10.1002/mgg3.2012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482394/
https://www.ncbi.nlm.nih.gov/pubmed/35789128
http://dx.doi.org/10.1002/mgg3.2012

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