http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_head http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_provenance http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://identifiers.org/ncbigene/6135 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/C0000768 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/DGN1b13fd5f7d1d2cfc0a5e2225bddc15b8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6135 http://rdf.disgenet.org/resource/gda/DGN1b13fd5f7d1d2cfc0a5e2225bddc15b8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000768 http://rdf.disgenet.org/resource/gda/DGN1b13fd5f7d1d2cfc0a5e2225bddc15b8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_provenance http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://purl.org/dc/terms/description [Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_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/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19061985 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_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/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/dc/terms/created 2015-08-25T14:44:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP675152.RArYIqpOjjCB7imXuz4mw4Tt310iAXzNQ2o4s5BskdFY0 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