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Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.

José Gustavo VargasNatalio J IzquierdoArmando L OliverSofia MunsOmar Garcia-RodriguezVíctor VillegasAndrés Emanuelli
Published in: Ophthalmic genetics (2022)
gene. The frequency of other pathogenic variants related to RP in Puerto Rico were different to those reported in Spain.
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • dna methylation
  • genome wide identification
  • gene expression
  • autism spectrum disorder
  • genome wide analysis