http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#head http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#assertion http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#provenance http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#assertion http://rdf.disgenet.org/resource/gda/DGN3077547fb93ccf57c8a83d76f063d560 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6607 http://rdf.disgenet.org/resource/gda/DGN3077547fb93ccf57c8a83d76f063d560 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGN3077547fb93ccf57c8a83d76f063d560 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#provenance http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#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/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#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/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23736298 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#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/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/dc/terms/created 2017-10-17T13:16:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP962410.RAUdmo9yGFOO3a4BJmknPJOlJA3UURP_bHIzbOhie8B7A 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