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