http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#head http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#assertion http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#provenance http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#assertion http://rdf.disgenet.org/resource/gda/DGN90e59fa49cfce51ee888528cc2f8aba2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3925 http://rdf.disgenet.org/resource/gda/DGN90e59fa49cfce51ee888528cc2f8aba2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGN90e59fa49cfce51ee888528cc2f8aba2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#provenance http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#assertion http://purl.org/dc/terms/description [Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein due to the functional loss of the SMN1 gene and the inability of its paralog, SMN2, to fully compensate due to reduced exon 7 splicing efficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#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/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23736298 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#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/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/dc/terms/created 2017-10-17T13:14:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP635830.RAqjRBuTvc8MJ8iQ1ecyXPEGNFxHga-_-4dptasG8NFe4 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