http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_head
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://identifiers.org/ncbigene/8546
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/C0001916
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/DGN7ea7a6875c91ebb759ffc4ae0a1b2db9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/8546
http://rdf.disgenet.org/resource/gda/DGN7ea7a6875c91ebb759ffc4ae0a1b2db9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0001916
http://rdf.disgenet.org/resource/gda/DGN7ea7a6875c91ebb759ffc4ae0a1b2db9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://purl.org/dc/terms/description
[Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25312756
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/dc/terms/created
2016-05-13T12:51:03+02:00
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1229123.RACWIGRlJaxusKklYDs4u-szWEbYp09yQrNRbDq_BPXrk
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0