http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#head http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#assertion http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#provenance http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#assertion http://rdf.disgenet.org/resource/gda/DGNc370d3cd1d91bc6aa2df3c119d607144 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5313 http://rdf.disgenet.org/resource/gda/DGNc370d3cd1d91bc6aa2df3c119d607144 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1387532 http://rdf.disgenet.org/resource/gda/DGNc370d3cd1d91bc6aa2df3c119d607144 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#provenance http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#assertion http://purl.org/dc/terms/description [SSCP procedure followed by direct gene sequencing in positive cases is fast and simple enough to allow the identification of PK deficient variants, avoiding the need of biochemical characterisation of semipurified deficient enzyme, which is more cumberso]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#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/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10374175 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/GAD http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#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/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/dc/terms/created 2017-10-17T13:15:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP825284.RApEUiUX83LQCKrxe8ghuOHALdujaqsCNLQ2j1XS7XSA0 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