Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- befree-20150227 importedOn "2015-02-27" NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_assertion wasGeneratedBy ECO_0000203 NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_assertion wasDerivedFrom befree-20150227 NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_assertion SIO_000772 24755273 NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_assertion evidence source_evidence_literature NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.
- NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_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." NP356987.RA7eHUCvO826eWWw3JmmAAja4erwtDFrYzc1fP3vY8-Us130_provenance.