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Novel variants in ABCA4-related retinopathies with structural re-assessment of variants of uncertain significance.

Kevin Gregory-EvansOlubayo U KolawoleRobert S MoldayCheryl Y Gregory-Evans
Published in: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (2024)
This study expands the genotypic and phenotypic spectrum of ABCA4 disease-associated variants. By panel-based genetic testing we identified 14 novel ABCA4 variants of which 8 were determined to be disease-causing or likely disease-causing. These methodologies could circumvent somewhat the need for labour intensive in vitro and in vivo assessments of novel ABCA4 variants.
Keyphrases
  • copy number
  • gene expression
  • dna methylation