http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_head http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_assertion http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_assertion http://identifiers.org/ncbigene/1146 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/C0265261 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#DGN7f4d520cf277380728b60bfa3987a7bb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1146 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7f4d520cf277380728b60bfa3987a7bb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265261 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7f4d520cf277380728b60bfa3987a7bb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_assertion http://purl.org/dc/terms/description [Genetic analysis of mutations in the neuromuscular junction genes such as CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1 may unveil the pathogenetic cause of fetal akinesia deformation sequence and multiple pterygium syndrome, and the information acquired is helpful for genetic counseling and clinical management.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_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#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22482962 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_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#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_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#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/dc/terms/created 2014-10-02T12:38:59+02:00 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP690031.RA48GAz25061HEr6Mtc2o2FGWsb1GFKX3btY6hg5dd86k 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