Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_assertion description "[A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_assertion evidence source_evidence_curated NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_assertion SIO_000772 8990006 NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_assertion wasDerivedFrom ctd_human-20130708 NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_assertion wasGeneratedBy ECO_0000218 NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7917.RAUAKJOyeCZvjI56_58s4Xxk7pgQKj6NCn2WNIzQYmtuo130_provenance.