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Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Elisa MarzialiSamuela LandiniErika FiorentiniCamilla RoccaLucia TiberiRosangela ArtusoLaila ZaroiliElia DirupoPina FortunatoSara BargiacchiRoberto CaputoGiacomo Maria Bacci
Published in: Ophthalmic genetics (2024)
variant.
Keyphrases
  • copy number
  • high resolution
  • optic nerve
  • genome wide