http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_head http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://identifiers.org/ncbigene/8573 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/C0036857 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#DGNf17d7dc3ea684ccb7b0684da567a58fc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8573 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf17d7dc3ea684ccb7b0684da567a58fc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036857 http://rdf.disgenet.org/gene-disease-association.ttl#DGNf17d7dc3ea684ccb7b0684da567a58fc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://purl.org/dc/terms/description [The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21735175 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/dc/terms/created 2014-10-02T12:38:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP633042.RA5hXPH-Pk6xZXPDOX6KuWnKTqe5BRU9OHLTg6oaUjjS0 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