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Genotypes and phenotypes of DNM1 encephalopathy.

Jeehyun KimLip-Yuen TengBilal ShakerDokyun NaHyun Yong KohSoon Sung KwonJoon Soo LeeHeung Dong KimHoon-Chul Kang
Published in: Journal of medical genetics (2023)
related phenotypes encompass a wide spectrum of epilepsy and neurodevelopmental disorders, with specific variants underlying different phenotypes.
Keyphrases
  • early onset
  • congenital heart disease
  • gene expression
  • drug induced