http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#head http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#assertion http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#provenance http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#assertion http://rdf.disgenet.org/resource/gda/DGN86dff34a119caa4d170444ad53b5450e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8398 http://rdf.disgenet.org/resource/gda/DGN86dff34a119caa4d170444ad53b5450e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023520 http://rdf.disgenet.org/resource/gda/DGN86dff34a119caa4d170444ad53b5450e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#provenance http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#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/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#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/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20853438 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#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/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/dc/terms/created 2017-10-17T13:17:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1143648.RASnKEQBR2mVth4EXpfBuobonr19hNbJYa9HsgRJX4WD4 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