http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_head http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://identifiers.org/ncbigene/11128 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/C0022735 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/DGNba150c085966414f944f57ec0aa54b0b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/11128 http://rdf.disgenet.org/resource/gda/DGNba150c085966414f944f57ec0aa54b0b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022735 http://rdf.disgenet.org/resource/gda/DGNba150c085966414f944f57ec0aa54b0b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://purl.org/dc/terms/description [The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of two genes (POLR3A and POLR3B) responsible for the syndrome demonstrates that these three main characteristics can be variably combined among Pol-III (polymerase III)-related leukodystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_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/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26204956 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_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/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/dc/terms/created 2016-05-13T12:51:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1290866.RAkUvTJA3i7eCgzaTqy8svK4wYsYWhCaRndkZf757IrVY 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