http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#head http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#provenance http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://rdf.disgenet.org/resource/gda/DGNb03ec4be235270bc324e51ec22e8e339 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1719 http://rdf.disgenet.org/resource/gda/DGNb03ec4be235270bc324e51ec22e8e339 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162309 http://rdf.disgenet.org/resource/gda/DGNb03ec4be235270bc324e51ec22e8e339 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#provenance http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://purl.org/dc/terms/description [To retest these findings, we analyzed 172 new DNA samples of X-ALD patients from different populations (France, Germany, USA, China) by genotyping eight genetic variants of methionine metabolism, including DHFR c.594+59del19bp, CBS c.844_855ins68, MTR c.2756A>G, MTHFR c.677C>T and c.1298A>C, MTRR c.60A>G, RFC1 c.80G>A, and Tc2 c.776C>G. We compared three X-ALD phenotypes: childhood-onset cerebral demyelinating inflammatory type (CCALD; n = 82), adulthood onset with focal cerebral demyelination (ACALD; n = 38), and adulthood onset without cerebral demyelination (AMN; n = 52).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#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/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19353223 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/GAD http://purl.org/pav/importedOn 2017-02-21 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/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/dc/terms/created 2017-10-17T13:12:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP287725.RAWiW4dXBVLYcNnIIKZBcQzqEFWKkn42y6dJJC3MoBaEQ 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