http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_head http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://identifiers.org/ncbigene/3908 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/C0030552 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/gene-disease-association.ttl#DGNb15b33defbcfaa4bf2274b6bbe5ffd96 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3908 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb15b33defbcfaa4bf2274b6bbe5ffd96 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030552 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb15b33defbcfaa4bf2274b6bbe5ffd96 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://purl.org/dc/terms/description [Initial reports of patients with laminin alpha2 chain (merosin) deficiency had a relatively homogeneous phenotype, with classical congenital muscular dystrophy (CMD) characterised by severe muscle weakness, inability to achieve independent ambulation, markedly raised creatine kinase, and characteristic white matter hypodensity on cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11584042 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/dc/terms/created 2014-10-02T12:35:25+02:00 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP349806.RAf-Uml_MBTzZtIVmVlZEcDcSwwM1RRvmG97x0OW7Kkg0 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0