Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

Currently, protein‐coding de novo variants and large copy number variants have been identified as important for ~30% of individuals with autism. One approach to identify relevant variation in individuals who lack these types of events is by utilizing newer genomic technologies. In this study, highly...

Descripción completa

Detalles Bibliográficos
Autores principales: Mehinovic, Elvisa, Gray, Teddi, Campbell, Meghan, Ekholm, Jenny, Wenger, Aaron, Rowell, William, Grudo, Ari, Grimwood, Jane, Korlach, Jonas, Gurnett, Christina, Constantino, John N., Turner, Tychele N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9197999/
https://www.ncbi.nlm.nih.gov/pubmed/35366058
http://dx.doi.org/10.1002/ajmg.a.62743

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9197999/
https://www.ncbi.nlm.nih.gov/pubmed/35366058
http://dx.doi.org/10.1002/ajmg.a.62743

Ejemplares similares