http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#head http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#provenance http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://rdf.disgenet.org/resource/gda/DGN17ae557f5a7a24e1efd9539fe11bcac7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4040 http://rdf.disgenet.org/resource/gda/DGN17ae557f5a7a24e1efd9539fe11bcac7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0021294 http://rdf.disgenet.org/resource/gda/DGN17ae557f5a7a24e1efd9539fe11bcac7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#provenance http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://purl.org/dc/terms/description [We therefore examined LRP6 in 192 unrelated infants from California with the NTD, spina bifida, and found four heterozygous missense SNVs, three of which were predicted to be deleterious, among NTD cases and not in 190 ethnically matched nonmalformed controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25546815 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/dc/terms/created 2017-10-17T13:14:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP654353.RAvu1Ij4-UnAZjo1U5YaIQkVs2tIXifk7ooOx06HTUuEM http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0