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Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
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Loeys-Dietz syndrome caused by 1q41 deletion including TGFβ2 is associated with a neurodevelopmental phenotype
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Gigantic genomes of salamanders indicate body temperature, not genome size, is the driver of global methylation and 5-methylcytosine deamination in vertebrates
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SCN1A-related epilepsy
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International League Against Epilepsy
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Faculty Publications and Research - MUCOM
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