<?xml version='1.0'?> <TriX xmlns='http://www.w3.org/2004/03/trix/trix-1/'> <graph> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#head</uri> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://www.nanopub.org/nschema#hasAssertion</uri> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://www.nanopub.org/nschema#hasProvenance</uri> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#provenance</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://www.nanopub.org/nschema#hasPublicationInfo</uri> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#publicationInfo</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://www.w3.org/1999/02/22-rdf-syntax-ns#type</uri> <uri>http://www.nanopub.org/nschema#Nanopublication</uri> </triple> </graph> <graph> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <triple> <uri>http://rdf.disgenet.org/resource/gda/DGN6a419a5f4c8b8c0954f3d1d2220b6b01</uri> <uri>http://semanticscience.org/resource/SIO_000628</uri> <uri>http://identifiers.org/ncbigene/57511</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/gda/DGN6a419a5f4c8b8c0954f3d1d2220b6b01</uri> <uri>http://semanticscience.org/resource/SIO_000628</uri> <uri>http://linkedlifedata.com/resource/umls/id/C0025958</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/gda/DGN6a419a5f4c8b8c0954f3d1d2220b6b01</uri> <uri>http://www.w3.org/1999/02/22-rdf-syntax-ns#type</uri> <uri>http://semanticscience.org/resource/SIO_001122</uri> </triple> </graph> <graph> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#provenance</uri> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <uri>http://purl.org/dc/terms/description</uri> <plainLiteral xml:lang='en'>[In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7/10), early lethality (6/10), and hypohidrosis predisposing for hyperthermia (6/10) and hyperkeratosis (4/10) as ectodermal signs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.</plainLiteral> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <uri>http://purl.org/ontology/wi/core#evidence</uri> <uri>http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <uri>http://semanticscience.org/resource/SIO_000772</uri> <uri>http://identifiers.org/pubmed/26260076</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <uri>http://www.w3.org/ns/prov#wasDerivedFrom</uri> <uri>http://rdf.disgenet.org/v5.0.0/void/BEFREE</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#assertion</uri> <uri>http://www.w3.org/ns/prov#wasGeneratedBy</uri> <uri>http://purl.obolibrary.org/obo/ECO_0000203</uri> </triple> <triple> <uri>http://rdf.disgenet.org/v5.0.0/void/BEFREE</uri> <uri>http://purl.org/pav/importedOn</uri> <typedLiteral datatype='http://www.w3.org/2001/XMLSchema#date'>2017-02-19</typedLiteral> </triple> <triple> <uri>http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature</uri> <uri>http://www.w3.org/1999/02/22-rdf-syntax-ns#type</uri> <uri>http://purl.obolibrary.org/obo/ECO_0000212</uri> </triple> <triple> <uri>http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature</uri> <uri>http://www.w3.org/2000/01/rdf-schema#comment</uri> <plainLiteral xml:lang='en'>Gene-disease associations inferred from text-mining the literature.</plainLiteral> </triple> <triple> <uri>http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature</uri> <uri>http://www.w3.org/2000/01/rdf-schema#label</uri> <plainLiteral xml:lang='en'>DisGeNET evidence - LITERATURE</plainLiteral> </triple> </graph> <graph> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY#publicationInfo</uri> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/dc/terms/created</uri> <typedLiteral datatype='http://www.w3.org/2001/XMLSchema#dateTime'>2017-10-17T13:18:45+02:00</typedLiteral> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/dc/terms/rights</uri> <uri>http://opendatacommons.org/licenses/odbl/1.0/</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/dc/terms/rightsHolder</uri> <uri>http://rdf.disgenet.org/v5.0.0/void/IBIGroup</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/dc/terms/subject</uri> <uri>http://semanticscience.org/resource/SIO_000983</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/net/provenance/ns#usedData</uri> <uri>http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/authoredBy</uri> <uri>http://orcid.org/0000-0001-5999-6269</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/authoredBy</uri> <uri>http://orcid.org/0000-0002-7534-7661</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/authoredBy</uri> <uri>http://orcid.org/0000-0002-9383-528X</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/authoredBy</uri> <uri>http://orcid.org/0000-0003-0169-8159</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/authoredBy</uri> <uri>http://orcid.org/0000-0003-1244-7654</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/createdBy</uri> <uri>http://orcid.org/0000-0003-0169-8159</uri> </triple> <triple> <uri>http://rdf.disgenet.org/resource/nanopub/NP1349426.RAacXO8WR0XZvoeHXRbk6iCbdLkwwjZr8K1pAgT-nnNlY</uri> <uri>http://purl.org/pav/version</uri> <typedLiteral datatype='http://www.w3.org/2001/XMLSchema#string'>v5.0.0.0</typedLiteral> </triple> <triple> <uri>http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf</uri> <uri>http://purl.org/pav/version</uri> <typedLiteral datatype='http://www.w3.org/2001/XMLSchema#string'>v5.0.0</typedLiteral> </triple> </graph> </TriX>