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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions
    1
    1. ClingenBaseline 22 Oct 2026
      in Baseline Annotations
      ClinGen HGNC:8952 ExfoliativeIchthyosis inferred_gene_hgnc:8952 inferred_gene_source:hgnc_tag UNC Biocuration Core
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    Tags

    • inferred_gene_source:hgnc_tag
    • HGNC:8952
    • UNC Biocuration Core
    • ExfoliativeIchthyosis
    • inferred_gene_hgnc:8952
    • ClinGen

    Annotators

    • ClingenBaseline

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4974070/
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