http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_head http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_provenance http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://identifiers.org/ncbigene/538 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/C0857057 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/DGN2cfd45949950f79ddfd198fe4ea20bd2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/538 http://rdf.disgenet.org/resource/gda/DGN2cfd45949950f79ddfd198fe4ea20bd2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0857057 http://rdf.disgenet.org/resource/gda/DGN2cfd45949950f79ddfd198fe4ea20bd2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_provenance http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://purl.org/dc/terms/description [As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_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/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9147645 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_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/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/dc/terms/created 2015-08-25T14:40:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP257149.RA1iFd1zs8sEvwp75N2Wx1GON-jDPLC-AbVSvZEzzDi7s 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