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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

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  • A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.
database_cross_reference
  • url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair
  • url:https://www.omim.org/entry/605676
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