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De novo mutations in epileptic encephalopathies.
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De novo mutations in epileptic encephalopathies.
De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12; 501(7466):217-21.
View in:
PubMed
subject areas
Child Development Disorders, Pervasive
Cohort Studies
Exome
Female
Fragile X Mental Retardation Protein
Genetic Predisposition to Disease
Humans
Infant
Intellectual Disability
Lennox Gastaut Syndrome
Male
Mutation
Mutation Rate
N-Acetylglucosaminyltransferases
Probability
Receptors, GABA-A
Spasms, Infantile
authors with profiles
Michael Smith