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Mutational analysis of the α-l-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations

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1. ClingenBaseline 24 Oct 2026
  
  in Baseline Annotations
  
  KH5 Hurler 5 Insertion 6 CTGCT 704ins5
  
  Proband KH5 was 5yo at report, has the Hurler phenotype, and has this variant in compound heterozygosity with p.Y618X
  
  CA256123 ClinVarID: 11921 CaseInfo Individual ClinVarID: 554826 CA355965929 inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core
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CA355965929

inferred_gene_hgnc:5391

inferred_gene_source:CAID

Individual

CA256123

UNC Biocuration Core

ClinVarID: 554826

ClinVarID: 11921

CaseInfo

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onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2004.00374.x