http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_head http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_assertion http://identifiers.org/ncbigene/2260 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/C0008925 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#DGNf1c6f8f145b53c51691f91fd739bd472 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2260 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf1c6f8f145b53c51691f91fd739bd472 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008925 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf1c6f8f145b53c51691f91fd739bd472 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_assertion http://purl.org/dc/terms/description [The results suggest the following: 1) KAL1 mutations might be more prevalent in the Japanese patients than previously estimated in the Caucasian patients and can be associated with apparently normal olfactory function; 2) FGFR1 mutations account for approximately 10% of KS patients, as previously reported in the Caucasian patients, and can result in HH and olfactory dysfunction-only phenotype; and 3) renal aplasia, which is characteristic of KAL1 mutations, and cleft palate and dental agenesis, which are characteristic of FGFR1 mutations, can occur in patients without KAL1 and FGFR1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_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#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15001591 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_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#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_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#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/dc/terms/created 2014-10-02T12:33:32+02:00 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP170647.RAo3QTOALdk3k2He5SzVyCi67RfCp8rEQFCLHEO1np5BY 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