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Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1.

Mohammad Javad GhorbaniSeyed Mohsen Dehghani
Published in: Molecular genetics & genomic medicine (2021)
Keyphrases
  • intellectual disability
  • genome wide
  • copy number
  • case report
  • dna methylation
  • genome wide identification