Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_assertion description "[Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 and CLN9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_assertion evidence source_evidence_curated NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_assertion SIO_000772 21990111 NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_assertion wasDerivedFrom uniprot-20130724 NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_assertion wasGeneratedBy ECO_0000218 NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5189.RAFKmXefQmiQROgbc1EbhnyR-c5Bl09UXcKRKjJ4Q8HhI130_provenance.