http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_head http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_assertion http://identifiers.org/ncbigene/2304 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/C0339864 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#DGN2af2332dc54ab27b8c517acdf7c2e5a7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2304 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2af2332dc54ab27b8c517acdf7c2e5a7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339864 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2af2332dc54ab27b8c517acdf7c2e5a7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_assertion http://purl.org/dc/terms/description [Such incomplete loss of TTF-2 function may account for the absence of choanal atresia and bifid epiglottis in our patients, anomalies which were present together with CH and cleft palate in two other individuals with the only other, more deleterious, TTF-2 mutation (A65V) described previously.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_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#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12165566 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_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#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_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#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/dc/terms/created 2014-10-02T12:40:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP866964.RA5R_yzyKC6Xr_hhB7j5ZN1o0i1xCF9Wez7oeShvSe-tg 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