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Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.

Vanita BerryAlexander IonidesMichalis GeorgiouRoy A QuinlanMichel Michaelides
Published in: BMJ open ophthalmology (2023)
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Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • bioinformatics analysis
  • gene expression
  • transcription factor
  • cataract surgery