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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Stosser, Mary Beth, Lindy, Amanda S, Butler, Elizabeth, Retterer, Kyle, Piccirillo-Stosser, Caitlin M, Richard, Gabriele, McKnight, Dianalee A
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
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Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5895461/
https://ncbi.nlm.nih.gov/pubmed/28837158
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.114
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