http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#head http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#assertion http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#provenance http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#assertion http://rdf.disgenet.org/resource/gda/DGNd1c18a2faf2d8ed23ada19b5745cbd70 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1130 http://rdf.disgenet.org/resource/gda/DGNd1c18a2faf2d8ed23ada19b5745cbd70 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0001916 http://rdf.disgenet.org/resource/gda/DGNd1c18a2faf2d8ed23ada19b5745cbd70 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#provenance http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#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/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#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/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25312756 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#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/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/dc/terms/created 2017-10-17T13:11:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214627.RATGpkoCkqDgpbAt9UYdYs1Yd7p78VU7LKz2jO0kebB_o 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