http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_head http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://identifiers.org/ncbigene/8905 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/C1136249 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/DGNb2b42bdddcb9d3d39c1e3a91a345aa0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8905 http://rdf.disgenet.org/resource/gda/DGNb2b42bdddcb9d3d39c1e3a91a345aa0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1136249 http://rdf.disgenet.org/resource/gda/DGNb2b42bdddcb9d3d39c1e3a91a345aa0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_provenance http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://purl.org/dc/terms/description [The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_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/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22210230 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 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/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/dc/terms/created 2015-08-25T14:45:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP810854.RASHzuCv-bs39QxmxcpSspuXkZ57QyFYdM3TmKgqb6yd4 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