http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#head http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#assertion http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#provenance http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#assertion http://rdf.disgenet.org/resource/gda/DGNc10ac648849a52e1a59214d4821ab93b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2592 http://rdf.disgenet.org/resource/gda/DGNc10ac648849a52e1a59214d4821ab93b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268151 http://rdf.disgenet.org/resource/gda/DGNc10ac648849a52e1a59214d4821ab93b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#provenance http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#assertion http://purl.org/dc/terms/description [Possession of GALT polymorphisms previously linked with low GALT activity, including the Q188R mutation of classic galactosemia or N314D mutation of the Duarte galactosemia variant, was associated with significantly higher FSH, even in the heterozygous state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#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/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7962282 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#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/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/dc/terms/created 2017-10-17T13:12:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP428511.RAHc7O6pFSqw9qJ8rtSvIMVbsmTTWNAfL24i8IeaFVm50 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