Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion> ?p ?o ?g. }
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- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion type Assertion NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_head.
- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_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." NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_provenance.
- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion evidence source_evidence_literature NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_provenance.
- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion SIO_000772 18593981 NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_provenance.
- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion wasDerivedFrom befree-20150227 NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_provenance.
- NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_assertion wasGeneratedBy ECO_0000203 NP584999.RAdse6c-YwFq9CUMjl9NjXHIkLqL7lKv35026H17MNX1I130_provenance.