http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#head http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#assertion http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#provenance http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#assertion http://rdf.disgenet.org/resource/gda/DGNd6d90f748de970c8c11001dabdb8afe2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/resource/gda/DGNd6d90f748de970c8c11001dabdb8afe2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGNd6d90f748de970c8c11001dabdb8afe2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#provenance http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#assertion http://purl.org/dc/terms/description [Development and incorporation of the SMN1 dosage assay into the molecular diagnostic service will increase the percentage of cases in which the diagnosis of SMA can be confirmed and allow preclinical and prenatal diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#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/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17627822 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#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/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/dc/terms/created 2017-10-17T13:16:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961591.RAwG9DGKQJSDvtve9QiiRm5NRwwQXvXSTZkXkMDrI-M30 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