http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#head http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#assertion http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#provenance http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#assertion http://rdf.disgenet.org/resource/gda/DGN10d396259cdf29ee29bdb6fc871bd67e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/resource/gda/DGN10d396259cdf29ee29bdb6fc871bd67e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027868 http://rdf.disgenet.org/resource/gda/DGN10d396259cdf29ee29bdb6fc871bd67e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#provenance http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#assertion http://purl.org/dc/terms/description [Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#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/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10234506 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#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/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/dc/terms/created 2017-10-17T13:16:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP961971.RAH7rba9rKftVI2aQaeUBV8YU7gXvfrggaftpiZpmZVHI 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