Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_assertion description "[Mutations in the MPV17 gene have been reported in patients who came to medical attention during infancy with liver failure, hypoglycemia, failure-to-thrive and neurological symptoms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_assertion evidence source_evidence_literature NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_assertion SIO_000772 20074988 NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_assertion wasDerivedFrom befree-20150227 NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_assertion wasGeneratedBy ECO_0000203 NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP568077.RAQjDZpvBuU2vAbPOGIyCPUj-CTQDh6-Sv8bwzBZQRA5g130_provenance.