http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#head http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#assertion http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#provenance http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#assertion http://rdf.disgenet.org/resource/gda/DGN517d9f29662998722679a04951f4a6e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/resource/gda/DGN517d9f29662998722679a04951f4a6e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGN517d9f29662998722679a04951f4a6e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#provenance http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#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/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#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/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23736298 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#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/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/dc/terms/created 2017-10-17T13:16:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961608.RAUX7Ke9kIRq2inEctzix78siXifz8fiJTXqKH7r9HItQ 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