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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control in...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8206159/
https://ncbi.nlm.nih.gov/pubmed/33932343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.04.009
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