High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

PURPOSE: Mosaicism probably represents an underreported cause of genetic disorders due to detection challenges during routine molecular diagnostics. The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related n...

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Detalles Bibliográficos
Autores principales: Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895461/
https://www.ncbi.nlm.nih.gov/pubmed/28837158
http://dx.doi.org/10.1038/gim.2017.114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895461/
https://www.ncbi.nlm.nih.gov/pubmed/28837158
http://dx.doi.org/10.1038/gim.2017.114

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