http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_head http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion http://identifiers.org/ncbigene/51151 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/DGNf2da76ebd2bf0b0d3829b90de4bb21c8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51151 http://rdf.disgenet.org/resource/gda/DGNf2da76ebd2bf0b0d3829b90de4bb21c8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0078918 http://rdf.disgenet.org/resource/gda/DGNf2da76ebd2bf0b0d3829b90de4bb21c8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_provenance http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_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/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_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/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18463683 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/gad-20150221 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_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/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/dc/terms/created 2015-08-25T14:38:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP117017.RA06oBPkF5K6kzfywTBCE8d9iskurh4SqH2YxGGFV50gg 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