http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_head http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_provenance http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://identifiers.org/ncbigene/225 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/C0162309 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/resource/gda/DGN01d25ec086885bc11f59737fd3c14754 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/225 http://rdf.disgenet.org/resource/gda/DGN01d25ec086885bc11f59737fd3c14754 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162309 http://rdf.disgenet.org/resource/gda/DGN01d25ec086885bc11f59737fd3c14754 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_provenance http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://purl.org/dc/terms/description [This study shows that: (1) ABCD1 gene mutations leading to truncated ALD protein are unlikely to cause variation in the ALD phenotype; (2) accumulation of saturated VLCFA in normal-appearing WM correlates with ALD phenotype and (3) expression of the ABCD4 and BG1, but not of the ABCD2, ABCD3 and VLCS genes, tends to be correlated with the severity of the disease, acting early in the pathogenesis of ALD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15800013 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/dc/terms/created 2015-08-25T14:39:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP234965.RAq5Sl91xiLt72hVkIs1m-V2qUjxMzAAN_qwLAgBJK7ck http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0