http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_head
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://identifiers.org/ncbigene/6607
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0270764
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/gene-disease-association.ttl#DGNf5f0bb70ab580aaa0944498407e780da
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6607
http://rdf.disgenet.org/gene-disease-association.ttl#DGNf5f0bb70ab580aaa0944498407e780da
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0270764
http://rdf.disgenet.org/gene-disease-association.ttl#DGNf5f0bb70ab580aaa0944498407e780da
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://purl.org/dc/terms/description
[A rare variant with associated myoclonic epilepsy and lower motor neuron disease had been previously described in three families before the SMN gene, responsible for the common form of SMA, was isolated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12571787
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/dc/terms/created
2014-10-02T12:36:00+02:00
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP403891.RAFnpvAciNCYt6kl_Xe8VXAYuWNfhj6Qog1rVLNi4QtZU
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0