http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#head http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#assertion http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#provenance http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#assertion http://rdf.disgenet.org/resource/gda/DGN59b9d27a1d83c35f21342eec348f89d3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6607 http://rdf.disgenet.org/resource/gda/DGN59b9d27a1d83c35f21342eec348f89d3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C4024957 http://rdf.disgenet.org/resource/gda/DGN59b9d27a1d83c35f21342eec348f89d3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#provenance http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#assertion http://purl.org/dc/terms/description [The survival motor neuron (SMN) gene is present in two copies on chromosome 5q13 and the evidence is now compelling that mutations in the telomeric copy (SMNt) of the gene underlie childhood onset proximal spinal muscular atrophy (SMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#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/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10545039 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#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/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/dc/terms/created 2017-10-17T13:16:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP962964.RA7eimV5fnKEHpzyxn9kwmWpWueD5rBax_WUaaIKA7UwQ 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