Article révisé par les pairs
Titre:
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Auteur:Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu, Chantal; Depondt, ; et al.
Informations sur la publication:American journal of human genetics, 108, 6, page (965-982)
Statut de publication:Publié, 2021-06-01
Sujet CREF:Neurologie
Mots-clés:ClinVar
Epi25
Louvain
epilepsy
epileptic encephalopathy
focal epilepsy
generalized epilepsy
intolerance
seizures
whole-exome sequencing
MeSH keywords:Case-Control Studies
Cohort Studies
Epilepsy -- classification -- genetics -- pathology
Exome
Genetic Markers
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Phenotype
Exome Sequencing -- methods
Langue:Anglais
Identificateurs:urn:issn:0002-9297
info:doi/10.1016/j.ajhg.2021.04.009
info:pii/S0002-9297(21)00140-3
info:pmid/33932343
PMC8206159