http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_head http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_assertion http://identifiers.org/ncbigene/55906 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/C0457133 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#DGN73afc18f4a7a5603f46f10d80d2f8a8d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55906 http://rdf.disgenet.org/gene-disease-association.ttl#DGN73afc18f4a7a5603f46f10d80d2f8a8d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0457133 http://rdf.disgenet.org/gene-disease-association.ttl#DGN73afc18f4a7a5603f46f10d80d2f8a8d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_assertion http://purl.org/dc/terms/description [CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_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#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12849864 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_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#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_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#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/dc/terms/created 2014-10-02T12:39:43+02:00 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP765888.RAf-KUj1j_DJ_nbygj8PMkz5x_2a3-e_h1yvPoK9izBOI 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