Study of Malformations of Cortical Development
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下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP092626
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资源简介：
This study features individuals with either polymicrogyria (PMG) or periventricular nodular heterotopia (PVNH) and their parents, recruited through the Epilepsy Phenome/Genome Project (EPGP). We performed phenotyping and whole exome or whole genome sequencing, trio analysis, and gene-level collapsing analysis to identify pathogenic de novo and inherited variants present in leukocyte-derived DNA.
创建时间：
2024-01-13
