http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_head http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion http://identifiers.org/ncbigene/9169 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/C0026847 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#DGNd4cf18612c3a27349c797a21a682509a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9169 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd4cf18612c3a27349c797a21a682509a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026847 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd4cf18612c3a27349c797a21a682509a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion http://purl.org/dc/terms/description [Since both genes, SMN1 and SIP1, belong to the same pathway and are part of the same protein complex, it is obvious to ask whether mutations within SIP1 are responsible for both the phenotypic variability and the appearance of non-SMN mutated SMA patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_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#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10909848 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_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#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_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#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/dc/terms/created 2014-10-02T12:36:49+02:00 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP484281.RA6rSbPKzfC1MQOZ7HNFfiXEsRpGvha_tSjxMtm9ZXMTk 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