http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#head http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#assertion http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#provenance http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#assertion http://rdf.disgenet.org/resource/gda/DGN6f594255a2ef625dab4621be705935af http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2304 http://rdf.disgenet.org/resource/gda/DGN6f594255a2ef625dab4621be705935af http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008297 http://rdf.disgenet.org/resource/gda/DGN6f594255a2ef625dab4621be705935af http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#provenance http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#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/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#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/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12165566 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#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/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/dc/terms/created 2017-10-17T13:12:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP404495.RAzMqcoBeKVPa7BKgBk66gwxGoy5sB2OQuuHyYqrY18fQ 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