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Novel West syndrome candidate genes in a Chinese cohort.

Jing PengYing WangFang HeChen ChenLi-Wen WuLi-Fen YangYu-Ping MaWen ZhangZi-Qing ShiChao ChenKun XiaHui GuoFei YinNan Pang
Published in: CNS neuroscience & therapeutics (2018)
This is the first WES study of Chinese WS patients with unknown etiology. This combination of phenotypic and genomic data will enable further testing to elucidate mechanisms underlying the pathogenesis of WS.
Keyphrases
  • electronic health record
  • case report
  • gene expression
  • machine learning