Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion> ?p ?o ?g. }
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- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion type Assertion NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_head.
- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion description "[A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_provenance.
- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion evidence source_evidence_literature NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_provenance.
- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion SIO_000772 12615648 NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_provenance.
- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion wasDerivedFrom befree-20150227 NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_provenance.
- NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_assertion wasGeneratedBy ECO_0000203 NP218344.RALf2e6lHXUM3NCGJ7c3Ze6BiQHfmPmL3Dfdxfle40s6k130_provenance.