Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_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." NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_assertion evidence source_evidence_curated NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_assertion SIO_000772 21990111 NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_assertion wasDerivedFrom uniprot-2016 NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_assertion wasGeneratedBy ECO_0000218 NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6813.RA6cJw_dErTbHJCKspedvUFL67Pmwq_9eAu34lRujWqL0130_provenance.