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    An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
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    1. ClingenBaseline 25 Oct 2026
      An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

      PMID:35614200

      Gene: IDUA

      Disease: MPS1

      Inheritance: Autosomal recessive

      A list of 11 IDUA variants identified in cases with MPS is included in Supplemental Table 6, but the variants are not linked to specific patients and are listed individually (not as genotypes). A page note has been added for each variant.

      Gene:IDUA DiseaseEntity:MPS1 InheritancePattern:AutosomalRecessive PMID:35614200 PMCID:PMC9437014 InsufficientEvidence inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9437014/