http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#head http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#assertion http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#provenance http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#assertion http://rdf.disgenet.org/resource/gda/DGNc79fee3a0be9b1bbad4a124895e6dbec http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6638 http://rdf.disgenet.org/resource/gda/DGNc79fee3a0be9b1bbad4a124895e6dbec http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/resource/gda/DGNc79fee3a0be9b1bbad4a124895e6dbec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#provenance http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#assertion http://purl.org/dc/terms/description [Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein due to the functional loss of the SMN1 gene and the inability of its paralog, SMN2, to fully compensate due to reduced exon 7 splicing efficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#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/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23736298 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#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/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/dc/terms/created 2017-10-17T13:16:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP966434.RAxBE8di_P4Z4sNg_35ZFS0Gta7bGdYdDYISrNY2HT6Yc 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