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  2. www.sciencedirect.com www.sciencedirect.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
    2
    1. ClingenBaseline 21 Oct 2026
      in Baseline Annotations

      EXTL3, HGNC:3518

      Neuro-immuno-skeletal Dysplasia Syndrome

      OMIM: 617425

      ClinGen General inferred_gene_hgnc:3518 inferred_gene_source:HGNC_body UNC Biocuration Core
    2. ClingenBaseline 21 Oct 2026
      in Baseline Annotations

      EXTL3, HGNC:3518

      Neuro-immuno-skeletal Dysplasia Syndrome

      OMIM: 617425

      ClinGen General inferred_gene_hgnc:3518 inferred_gene_source:HGNC_body UNC Biocuration Core
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    Tags

    • UNC Biocuration Core
    • ClinGen
    • inferred_gene_hgnc:3518
    • inferred_gene_source:HGNC_body
    • General

    Annotators

    • ClingenBaseline

    URL

    sciencedirect.com/science/article/pii/S0002929717300137
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