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DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.

Junwon LeeHyun Joo LeeYoung-Mock LeeHelen J KuhtMervyn G ThomasSang Jin KimSeung-Tae LeeJinu Han
Published in: Clinical genetics (2021)
Keyphrases
  • intellectual disability
  • copy number
  • autism spectrum disorder
  • gene expression
  • dna methylation