http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_head http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_provenance http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://identifiers.org/ncbigene/546 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/C0030846 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/gene-disease-association.ttl#DGN78b66dcbad8a0255136e4c8c8446d00e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/546 http://rdf.disgenet.org/gene-disease-association.ttl#DGN78b66dcbad8a0255136e4c8c8446d00e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030846 http://rdf.disgenet.org/gene-disease-association.ttl#DGN78b66dcbad8a0255136e4c8c8446d00e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_provenance http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://purl.org/dc/terms/description [Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19291773 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/dc/terms/created 2014-10-02T12:32:02+02:00 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP9485.RAyxEtz1wkAvGRVeMotUds1XJOrmxCsr1WZ1cJDxqSsng http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0