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Journal: Genes, 2022
Volume: 13
Number: 1743

Article: Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
Authors: by Saima Ghafoor, Karina da Costa Silveira, Raheel Qamar, Maleeha Azam and Peter Kannu
Link: https://www.mdpi.com/2073-4425/13/10/1743

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