http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_head http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_provenance http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://identifiers.org/ncbigene/9856 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/C0410174 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/DGNdd9cb08ca160849aab47b16fb6efb8f3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9856 http://rdf.disgenet.org/resource/gda/DGNdd9cb08ca160849aab47b16fb6efb8f3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410174 http://rdf.disgenet.org/resource/gda/DGNdd9cb08ca160849aab47b16fb6efb8f3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_provenance http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://purl.org/dc/terms/description [Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_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/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16570239 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_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/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/dc/terms/created 2016-05-13T12:45:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP542432.RAItg1vcLKTkvGmKUojUXzGHoJYmNwYVfcyuY2zQXhmDM 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