Associated Papers
Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.
Feng WX et al.
Seizure, 2024
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Pagnamenta AT et al.
Journal of Human Genetics, 2012
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
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