http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_head http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion http://identifiers.org/ncbigene/1300 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/C0039743 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#DGN8c17ed76d3a94278df51b90bebd0a861 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1300 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8c17ed76d3a94278df51b90bebd0a861 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0039743 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8c17ed76d3a94278df51b90bebd0a861 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_provenance http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion http://purl.org/dc/terms/description [We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_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#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/1329505 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_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#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_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#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/dc/terms/created 2014-10-02T12:40:00+02:00 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP787839.RAqHh_E1b_2BsZw3r5IfRwUR7cnozvAvMmiQW3575olII 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