http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#head http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#assertion http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#provenance http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#assertion http://rdf.disgenet.org/resource/gda/DGN95556b443652239b41c12ab33bb5917e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4598 http://rdf.disgenet.org/resource/gda/DGN95556b443652239b41c12ab33bb5917e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342731 http://rdf.disgenet.org/resource/gda/DGN95556b443652239b41c12ab33bb5917e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#provenance http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#assertion http://purl.org/dc/terms/description [Although the MK activity in cells and mevalonic acid concentrations in urine are strongly aberrant and comparable to that in patients with systemic mevalonate kinase deficiency (MKD), only mild clinical symptoms related to this syndrome were observed in our patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#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/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24084495 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#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/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/dc/terms/created 2017-10-17T13:14:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP732655.RAUUK3ZnmNmCmuOGnN_Q4h9P_A04t8g5Y4bxQwefP5RCw 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