http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_head
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://identifiers.org/ncbigene/8481
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/C1510460
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/DGN3c1c96107f20e267b317c47b209888e4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8481
http://rdf.disgenet.org/resource/gda/DGN3c1c96107f20e267b317c47b209888e4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1510460
http://rdf.disgenet.org/resource/gda/DGN3c1c96107f20e267b317c47b209888e4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://purl.org/dc/terms/description
[Comprehensive mutation analysis in OFD1 revealed mutations in 37 female patients from 30 families; 22 mutations have not been previously described including two heterozygous deletions spanning OFD1 and neighbouring genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23033313
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v3.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v3.0.0/void/uniprot-20150221
http://purl.org/pav/importedOn
2015-02-21
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/dc/terms/created
2015-08-25T14:37:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP467.RAJEiAS0-4WGQHUZTjMtzS4qjHrvEoSGaOXFE1SAW1KrI
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