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A new mutation in the PDE6C gene in achromatopsia.

Laura Jiménez-SilesFrancisco Zamorano-MartinMaría García LorenteFacundo UrbinatiAnil Rahul RachwaniMaría Fernández-FigaresManuela España-Contreras
Published in: European journal of ophthalmology (2022)
gene in a patient with incomplete achromatopsia.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • case report
  • dna methylation
  • transcription factor
  • genome wide analysis