Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
Article in Genes (September 2022)
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Article in Genes (September 2022)
Article in Kuban Scientific Medical Bulletin (January 2022)
Article in Orphanet Journal of Rare Diseases (October 2021)