http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_head http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_provenance http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://identifiers.org/ncbigene/5053 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/C0031485 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/DGNb2701decc20fef37f327bc83f435f347 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5053 http://rdf.disgenet.org/resource/gda/DGNb2701decc20fef37f327bc83f435f347 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0031485 http://rdf.disgenet.org/resource/gda/DGNb2701decc20fef37f327bc83f435f347 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_provenance http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://purl.org/dc/terms/description [We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which occur at relative frequencies of 41.0% and 10.4% respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11317360 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/dc/terms/created 2016-05-13T12:44:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0