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Article
Female
Humans
Male
6
disease severity
6
female
6
genetic variability
genetics
human
6
male
6
missense mutation
sequence analysis
6
Germ-Line Mutation
4
Mutation
4
Sanger sequencing
4
clinical article
4
controlled study
4
epilepsy
4
exon
4
family history
4
gene deletion
4
gene frequency
4
gene sequence
4
germline mutation
4
heterozygosity
4
intellectual impairment
4
mosaicism
4
mutation
4
phenotype
4
point mutation
4
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