Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP743533.RAAz7UkyHpleCaICSOgfIwV4qwD-Rp_fqxAnAqachfOy8#assertion> ?p ?o ?g. }
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- assertion description "[Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18593981 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.