http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_head
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_assertion
http://identifiers.org/ncbigene/1134
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/C1276035
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#DGN9544a396167165a99c042da4f5bdf982
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1134
http://rdf.disgenet.org/gene-disease-association.ttl#DGN9544a396167165a99c042da4f5bdf982
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1276035
http://rdf.disgenet.org/gene-disease-association.ttl#DGN9544a396167165a99c042da4f5bdf982
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_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#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_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#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22482962
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_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#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_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#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/dc/terms/created
2014-10-02T12:39:01+02:00
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP693460.RA55RUN8LRSwSa3vBgkERJ_3poLR7Isd9xEFJJunO4eqo
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