http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_head http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_assertion http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_assertion http://identifiers.org/ncbigene/5913 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#DGNe5b87a97de09cecb6b72d193636be99e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5913 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe5b87a97de09cecb6b72d193636be99e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265261 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe5b87a97de09cecb6b72d193636be99e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_provenance http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_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#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_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#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22482962 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_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#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_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#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/dc/terms/created 2014-10-02T12:40:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP820305.RAiWsq5HYDf82EiJQ0kDgMTE-JKvvGsibCya9UAIbXdNw 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