http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#head http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#assertion http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#provenance http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#assertion http://rdf.disgenet.org/resource/gda/DGN7d21b103c828172dfbf8c0afb7931f0b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1001 http://rdf.disgenet.org/resource/gda/DGN7d21b103c828172dfbf8c0afb7931f0b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0730292 http://rdf.disgenet.org/resource/gda/DGN7d21b103c828172dfbf8c0afb7931f0b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#provenance http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#assertion http://purl.org/dc/terms/description [Altogether, our results obtained in a series of families of various ethnic origins firmly establish mutations in CDH3 as the proximal cause of hypotrichosis with juvenile macular dystrophy and demonstrate genetic homogeneity as well as phenotypic heterogeneity in this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#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/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14708629 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#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/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/dc/terms/created 2017-10-17T13:11:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP189333.RAcytqkDeaR6XRHPl6dGGQm3Rizxp9El-iRzuus63b9Go 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