http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#head
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#assertion
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#provenance
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#assertion
http://rdf.disgenet.org/resource/gda/DGN4005127ec383a5efb7b5f132808eb3e8
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/55636
http://rdf.disgenet.org/resource/gda/DGN4005127ec383a5efb7b5f132808eb3e8
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0003126
http://rdf.disgenet.org/resource/gda/DGN4005127ec383a5efb7b5f132808eb3e8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#provenance
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#assertion
http://purl.org/dc/terms/description
[Substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same Kallmann syndrome gene defects including in newer ones (FGF8 and CHD7) continues to be repeatedly observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#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/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20543690
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#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/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/dc/terms/created
2017-10-17T13:18:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1335538.RAXCfkERCZsab1owKi9VNgbxu7O8inuGGFWHv6aQwpHsA
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