Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_assertion description "[Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_assertion evidence source_evidence_curated NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_assertion SIO_000772 22956686 NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_assertion wasDerivedFrom uniprot-20150221 NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_assertion wasGeneratedBy ECO_0000218 NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP100.RAp-u9BVUtmL8tiSThL5GGtBGKO22deqkz1mZQ5Q-MefU130_provenance.