http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_head
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://identifiers.org/ncbigene/6490
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/C0078918
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/DGN878c1ee101b2a52d0833072dcc9c657a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6490
http://rdf.disgenet.org/resource/gda/DGN878c1ee101b2a52d0833072dcc9c657a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0078918
http://rdf.disgenet.org/resource/gda/DGN878c1ee101b2a52d0833072dcc9c657a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://purl.org/dc/terms/description
[To assess the prevalence of different forms of OCA and different gene mutations among non-Hispanic Caucasian patients, we performed DNA sequence analysis of the four genes associated with 'classical' OCA (TYR, OCA2, TYRP1, SLC45A2), the two principal genes associated with syndromic OCA (HPS1, HPS4), and a candidate OCA gene (SILV), in 121 unrelated, unselected non-Hispanic/Latino Caucasian patients carrying the clinical diagnosis of OCA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18463683
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/gad-20150221
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/gad-20150221
http://purl.org/pav/importedOn
2015-02-21
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/dc/terms/created
2015-08-25T14:38:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP124908.RAE3R5akEcp0PvYWNcf6Z_saRtoIi9HW9GZxKoTqunUuE
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