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A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.

Ga-In LeeChung LeeSam SubramanianNayoung K D KimChang-Seok KiWoong-Yang ParkByoung Joon KimSang Jin Kim
Published in: Ophthalmic genetics (2017)
Keyphrases
  • case report
  • early onset
  • copy number
  • genome wide
  • genome wide identification