Insights from Spatial Measures of Intolerance to Identifying Pathogenic Variants in Developmental and Epileptic Encephalopathies

Developmental and epileptic encephalopathies (DEEs) are a group of epilepsies with early onset and severe symptoms that sometimes lead to death. Although previous work successfully discovered several genes implicated in disease outcomes, it remains challenging to identify causative mutations within...

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Detalles Bibliográficos
Autores principales: Silk, Michael, de Sá, Alex, Olshansky, Moshe, Ascher, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049344/
https://www.ncbi.nlm.nih.gov/pubmed/36982187
http://dx.doi.org/10.3390/ijms24065114

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