http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_head http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_provenance http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://identifiers.org/ncbigene/4204 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/C2931847 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/DGN0166dc34a5fec04f1cc9e41ca97ae198 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4204 http://rdf.disgenet.org/resource/gda/DGN0166dc34a5fec04f1cc9e41ca97ae198 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931847 http://rdf.disgenet.org/resource/gda/DGN0166dc34a5fec04f1cc9e41ca97ae198 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_provenance http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://purl.org/dc/terms/description [While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_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/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20860806 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_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/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/dc/terms/created 2016-05-13T12:48:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP841031.RADIWtEvXsa2AulUEyRyks3dUm3OP7xn3AO5YYOrWrU9A 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