http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#head http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#assertion http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#provenance http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#assertion http://rdf.disgenet.org/resource/gda/DGN509dac782ea8ca58533a702ace226261 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3925 http://rdf.disgenet.org/resource/gda/DGN509dac782ea8ca58533a702ace226261 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C4024957 http://rdf.disgenet.org/resource/gda/DGN509dac782ea8ca58533a702ace226261 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#provenance http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#assertion http://purl.org/dc/terms/description [The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#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/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9837824 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#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/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/dc/terms/created 2017-10-17T13:14:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636115.RAY3Portqp-mZEZLYWsp3q5mlvGPIGx-ZeZqo2mvflxyg 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