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The landscape of epilepsy-related GATOR1 variants.
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The landscape of epilepsy-related GATOR1 variants.
The landscape of epilepsy-related GATOR1 variants. Genet Med. 2019 02; 21(2):398-408.
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PubMed
subject areas
Adolescent
Brugada Syndrome
Child
Child, Preschool
DNA Copy Number Variations
Epilepsy
Female
Genetic Predisposition to Disease
GTPase-Activating Proteins
Humans
INDEL Mutation
Infant
Infant, Newborn
Loss of Function Mutation
Male
Mechanistic Target of Rapamycin Complex 1
Multiprotein Complexes
Pedigree
Repressor Proteins
Seizures
Signal Transduction
Tumor Suppressor Proteins
authors with profiles
Douglas Nordli