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  2. www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
    Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis | NEJM
    1
    1. ClingenBaseline 23 Oct 2026
      in Baseline Annotations
      The most common cause of death in patients with dyskeratosis congenita is bone marrow failure due to aplastic anemia. Pulmonary disease is present in 20% of patients and is the second most common cause of death.16–18

      Linking DKC with Pulmonary disease

      PulmonaryDisease DyskeratosisCongenita Phenotype Gene: TERC inferred_gene_hgnc:11727 inferred_gene_source:Gene_Name UNC Biocuration Core
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    Tags

    • inferred_gene_hgnc:11727
    • inferred_gene_source:Gene_Name
    • UNC Biocuration Core
    • Phenotype
    • Gene: TERC
    • PulmonaryDisease
    • DyskeratosisCongenita

    Annotators

    • ClingenBaseline

    URL

    www-nejm-org.libproxy.lib.unc.edu/doi/full/10.1056/NEJMoa066157
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