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  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Understanding N‐Acetyl‐L‐Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations
    1
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations
      Understanding N‐Acetyl‐L‐Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

      PMID: 27037498

      Gene: NAGS

      MonDO: MONDO:0009377

      InheritancePattern: AR

      inferred_gene_hgnc:17996 inferred_gene_source:Gene_Name ClinGen Aminoacidopathy
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    • ClinGen Aminoacidopathy
    • inferred_gene_hgnc:17996
    • inferred_gene_source:Gene_Name

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    • ClingenBaseline

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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1002/humu.22995
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Hypothes.is
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