http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_head http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://identifiers.org/ncbigene/274 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/C0175709 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/DGNa5f81c44626556baba4cac85a05e130c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/274 http://rdf.disgenet.org/resource/gda/DGNa5f81c44626556baba4cac85a05e130c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175709 http://rdf.disgenet.org/resource/gda/DGNa5f81c44626556baba4cac85a05e130c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://purl.org/dc/terms/description [In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21129173 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/dc/terms/created 2015-08-25T14:39:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP237766.RAzy0OZNRusaPDr6WrHhL2VwnKABuqOFlD6HBZDOJjBzQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0