http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_head
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_assertion
http://identifiers.org/ncbigene/5009
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/C0263214
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#DGNc44a2abe7d161a27e6cee11a0477be71
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5009
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc44a2abe7d161a27e6cee11a0477be71
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0263214
http://rdf.disgenet.org/gene-disease-association.ttl#DGNc44a2abe7d161a27e6cee11a0477be71
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_assertion
http://purl.org/dc/terms/description
[In order to improve the efficiency of our screening for mutant genotypes, we focused on molecular domains of functional or structural importance in the OTC gene, namely the carbamyl phosphate binding domain (encoded by the third exon) and the MspI restriction sites (CCGG) of the coding sequence (located in exons 2 and 7 respectively), as they contain mutation hot spots (CpG doublets).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_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#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/1353535
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_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#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_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#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/dc/terms/created
2014-10-02T12:40:10+02:00
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP798080.RA3G9YnZL62Pg3AxI3J_oBNuJbyOVVaF1efyszYXQLmzE
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