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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene
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    1. ClingenBaseline 22 Oct 2026
      An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene

      Free, full-text NOT available. Text obtained through a University account and annotations added to the free PubMed abstract.

      IDUA variants were pulled from various public databases and subjected to in silico analyses. No individual-level patient data (e.g., phenotypes) are provided.

      PMID:28608934 Gene:IDUA DiseaseEntity:MPS1 NoDiseaseAssertion InsufficientEvidence inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/28608934/