http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_head http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_assertion http://identifiers.org/ncbigene/79152 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/C0037773 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#DGN3fdec7811f904d949a5d3ea028edcf13 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79152 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fdec7811f904d949a5d3ea028edcf13 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0037773 http://rdf.disgenet.org/gene-disease-association.ttl#DGN3fdec7811f904d949a5d3ea028edcf13 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_assertion http://purl.org/dc/terms/description [Analogous to what has been reported previously for PLA2G6, the phenotypic spectrum of FA2H mutations is diverse based on our findings and those of prior investigators, because FA2H mutations have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_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#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20853438 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_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#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_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#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/dc/terms/created 2014-10-02T12:40:59+02:00 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP882948.RAAUA0Q9uYRm1yvTLsrowqfqSJRVzuiqkZ-Y6c43Tr1zU 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