http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#head http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#assertion http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#provenance http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#assertion http://rdf.disgenet.org/resource/gda/DGN96ac1bbd7229fe63f88e35d0b23638a7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3988 http://rdf.disgenet.org/resource/gda/DGN96ac1bbd7229fe63f88e35d0b23638a7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008384 http://rdf.disgenet.org/resource/gda/DGN96ac1bbd7229fe63f88e35d0b23638a7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#provenance http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#assertion http://purl.org/dc/terms/description [These findings, together with our previous observations when analyzing the mutations in WD and CESD patients lead to the conclusion that the more severe WD is due to mutations that absolutely abolish lysosomal acid lipase (LAL) enzyme activity and the cholesteryl ester storage disease phenotype is due to mutations that allow some residual LAL activity to be manifested.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#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/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/8864960 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#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/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/dc/terms/created 2017-10-17T13:14:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP647176.RAk25SfKUhiZmnvZuLHaKYNZE4tzLt9_j_g9L1yDfLLaA 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