http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#head
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#assertion
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#provenance
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#assertion
http://rdf.disgenet.org/resource/gda/DGN48f7143e1087a8007e7dba836a5e2cdf
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2260
http://rdf.disgenet.org/resource/gda/DGN48f7143e1087a8007e7dba836a5e2cdf
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0542519
http://rdf.disgenet.org/resource/gda/DGN48f7143e1087a8007e7dba836a5e2cdf
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#provenance
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#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/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#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/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15001591
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#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/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/dc/terms/created
2017-10-17T13:12:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP396758.RAK5LsUK_t6SZz2nNIX5j8bgmIOH4A8aKR3Ar1SXF7DyE
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