Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_assertion wasGeneratedBy ECO_0000203 NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_assertion wasDerivedFrom befree-2016 NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_assertion SIO_000772 24755273 NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_assertion evidence source_evidence_literature NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.
- NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_assertion description "[Mutations in the gene encoding the heavy chain subunit (DYNC1H1) of cytoplasmic dynein cause spinal muscular atrophy with lower extremity predominance, Charcot-Marie-Tooth disease and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175706.RAuQiWG4tJ9VlTRCac-wD1OJZZw85jS1RMu4cQEQG86JM130_provenance.