http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#head http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#assertion http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#provenance http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#assertion http://rdf.disgenet.org/resource/gda/DGN1345a3c6dfa2eab9fb0277d81546b707 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2260 http://rdf.disgenet.org/resource/gda/DGN1345a3c6dfa2eab9fb0277d81546b707 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3887505 http://rdf.disgenet.org/resource/gda/DGN1345a3c6dfa2eab9fb0277d81546b707 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#provenance http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#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/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#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/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15001591 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#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/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/dc/terms/created 2017-10-17T13:12:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP396129.RA1_KUOvqt4ez-eTO5gijOp_DKdizSWgOtDXkzojzLF90 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