http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#head http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#assertion http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#provenance http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#assertion http://rdf.disgenet.org/resource/gda/DGN0f69f57aee3d4c05205f751c9e4b7a2f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3925 http://rdf.disgenet.org/resource/gda/DGN0f69f57aee3d4c05205f751c9e4b7a2f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C4024957 http://rdf.disgenet.org/resource/gda/DGN0f69f57aee3d4c05205f751c9e4b7a2f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#provenance http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#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/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#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/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10545039 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#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/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/dc/terms/created 2017-10-17T13:14:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636118.RAsl-xYn-rTDdHN4sFfYqrKU1Du-qN8mafb65nUVDfRng 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