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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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type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007636
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	DNA ligase IV deficiency
annotatedTarget	A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
database_cross_reference	url:http://omim.org/entry/606593 url:http://www.ncbi.nlm.nih.gov/gene/3981
is topic of	Human Disease Ontology

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