http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_head http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_provenance http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://identifiers.org/ncbigene/2592 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/C0268151 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/DGN264b99de5af654cdd232108f944e8c51 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2592 http://rdf.disgenet.org/resource/gda/DGN264b99de5af654cdd232108f944e8c51 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268151 http://rdf.disgenet.org/resource/gda/DGN264b99de5af654cdd232108f944e8c51 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_provenance http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://purl.org/dc/terms/description [Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simultaneously for GALT enzyme activity and allele-specific PCR/fragment analysis for seven mutations and two polymorphisms in the GALT gene (mutations IVS2-2A>G, p.S135L, p.T138M, p.L195P, p.K285N, p.Q188R, p.Y209C; polymorphisms p.N314D, p.L218L).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_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/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17876724 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_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/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/dc/terms/created 2016-05-13T12:46:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP630650.RAAYwj-aBFF6r4uO6gNXfYH0HyhG2cy5aSpAQL_WWgtEs 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