http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_head http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_provenance http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://identifiers.org/ncbigene/2218 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/DGN2ec43fc53759a3d39db9a5aef779ea58 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2218 http://rdf.disgenet.org/resource/gda/DGN2ec43fc53759a3d39db9a5aef779ea58 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410174 http://rdf.disgenet.org/resource/gda/DGN2ec43fc53759a3d39db9a5aef779ea58 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_provenance http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://purl.org/dc/terms/description [To explain the observation of 3/23 FCMD males with abnormal dystrophin, we propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_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/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1731332 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_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/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/dc/terms/created 2016-05-13T12:46:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP595087.RAPOm4_A2pKjGNxeuvOSIkcDSWl_1uZchqAE0YAnc6Dzc 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