http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#head http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#assertion http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#provenance http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#assertion http://rdf.disgenet.org/resource/gda/DGNc363c00e22a8bf6449f13219f328b5c1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3931 http://rdf.disgenet.org/resource/gda/DGNc363c00e22a8bf6449f13219f328b5c1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023195 http://rdf.disgenet.org/resource/gda/DGNc363c00e22a8bf6449f13219f328b5c1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#provenance http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#assertion http://purl.org/dc/terms/description [We have described a new family with LCAT deficiency and have studied three sisters with characteristic corneal opacities and no detectable plasma LCAT activity, together with eight obligate heterozygotes who have reduced LCAT activity but are phenotypically normal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#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/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7156322 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#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/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/dc/terms/created 2017-10-17T13:14:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP636891.RAl2BgcuEo6n56CW14RhOm1WvX9y7ct25qCJnNTJQ6pcc 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