http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_head http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://identifiers.org/ncbigene/55624 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/C0020255 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/DGNc4630b803192cf1cc91a66c366afe7eb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55624 http://rdf.disgenet.org/resource/gda/DGNc4630b803192cf1cc91a66c366afe7eb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020255 http://rdf.disgenet.org/resource/gda/DGNc4630b803192cf1cc91a66c366afe7eb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_provenance http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://purl.org/dc/terms/description [We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_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/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12588800 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_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/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/dc/terms/created 2016-05-13T12:44:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP383950.RAyF4hKDqFpBbb6DOZN0MCmrHZV4xrE88scRyo2mVJuxM 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