http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_head http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion http://identifiers.org/ncbigene/3028 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/C0025362 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#DGN159c999ac4a0df333715d963efebfce1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3028 http://rdf.disgenet.org/gene-disease-association.ttl#DGN159c999ac4a0df333715d963efebfce1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0025362 http://rdf.disgenet.org/gene-disease-association.ttl#DGN159c999ac4a0df333715d963efebfce1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_provenance http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion http://purl.org/dc/terms/description [The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_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#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22132097 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_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#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_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#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/dc/terms/created 2014-10-02T12:39:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP717815.RAFW83V0j2KaaYDJSUSOCP4N03seUFgXN5SJ4LFEQwT40 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