http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#head http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#provenance http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://rdf.disgenet.org/resource/gda/DGN63bee5e9146ce4fd07c372f41c8629bf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6638 http://rdf.disgenet.org/resource/gda/DGN63bee5e9146ce4fd07c372f41c8629bf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGN63bee5e9146ce4fd07c372f41c8629bf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#provenance http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://purl.org/dc/terms/description [The survival motor neuron (SMN) gene is present in two copies on chromosome 5q13 and the evidence is now compelling that mutations in the telomeric copy (SMNt) of the gene underlie childhood onset proximal spinal muscular atrophy (SMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10545039 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/dc/terms/created 2017-10-17T13:16:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966425.RACV4Sbjl1Pm2F11NQlEeJSWWHIbesHj-PzqcL_xmPD5U http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0