http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_head http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_provenance http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_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/C0022735 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/resource/gda/DGNcf3332a2974af18a83668205ddfe5af9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2260 http://rdf.disgenet.org/resource/gda/DGNcf3332a2974af18a83668205ddfe5af9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022735 http://rdf.disgenet.org/resource/gda/DGNcf3332a2974af18a83668205ddfe5af9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_provenance http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_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/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15001591 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/dc/terms/created 2015-08-25T14:41:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP400306.RAeey2pl1tHNu1xLpBvEmhsZej7Uv_E_vHKlpLHtYbIMk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0