Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion> ?p ?o ?g. }
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- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion type Assertion NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_head.
- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion description "[The affected boy, who possesses mutant HSD10 (p.V65A), has a neurological syndrome with metabolic derangements, choreoathetosis, refractory epilepsy and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_provenance.
- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion evidence source_evidence_literature NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_provenance.
- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion SIO_000772 22132097 NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_provenance.
- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion wasDerivedFrom befree-20150227 NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_provenance.
- NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_assertion wasGeneratedBy ECO_0000203 NP977341.RAkI5XYJznYK8ZhNKemkTw0rY_9Wq52bx9WzxMwDyog-o130_provenance.