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Journal: GenesVolume: 13Number: 1743
Article: Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
  • Authors:
  • Saima Ghafoor 1,
  • Karina da Costa Silveira 2 and
  • Peter Kannu 2,*
  • et al.
Link: https://www.mdpi.com/2073-4425/13/10/1743

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