Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion> ?p ?o ?g. }
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- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion type Assertion NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_head.
- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion description "[Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_provenance.
- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion evidence source_evidence_literature NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_provenance.
- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion SIO_000772 11941538 NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_provenance.
- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion wasDerivedFrom lhgdn-20090331 NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_provenance.
- NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_assertion wasGeneratedBy ECO_0000203 NP120722.RAJ_7jy-3v4ejnAyb6gbvUaYZQgs12YvCXYMFBXyIRWIU130_provenance.