http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_head http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_provenance http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://identifiers.org/ncbigene/3925 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0026847 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNb6462df97624de925f78cca43f9e62de http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3925 http://rdf.disgenet.org/resource/gda/DGNb6462df97624de925f78cca43f9e62de http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGNb6462df97624de925f78cca43f9e62de http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_provenance http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://purl.org/dc/terms/description [The correlation between the SMA phenotype and the SMN2 copy number and the demonstration that sufficient SMN protein from SMN2 in transgenic mice can ameliorate the disease has made the SMN2 gene an obvious target that is being modulated in current therapeutic trials.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20829691 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/dc/terms/created 2016-05-13T12:48:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP838277.RAnakT_GyCfRldUOj2AOWpkQYJ3HQRDCmv6Cje_95UKn4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0