http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#head http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#assertion http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#assertion http://rdf.disgenet.org/resource/gda/DGN68e30e6ec3a5317549d0a74245823110 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57511 http://rdf.disgenet.org/resource/gda/DGN68e30e6ec3a5317549d0a74245823110 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0870082 http://rdf.disgenet.org/resource/gda/DGN68e30e6ec3a5317549d0a74245823110 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#assertion http://purl.org/dc/terms/description [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. http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#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/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26260076 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#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/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/dc/terms/created 2017-10-17T13:18:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1349442.RAF3Tbcu2cdcQOQHZbHmRhGfUATjBBVvFtlMWNjF605bQ 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