http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_head
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://identifiers.org/ncbigene/4935
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/C0342684
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/DGNa4c6e1ec7be2aea179b42533f9ca5bca
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4935
http://rdf.disgenet.org/resource/gda/DGNa4c6e1ec7be2aea179b42533f9ca5bca
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0342684
http://rdf.disgenet.org/resource/gda/DGNa4c6e1ec7be2aea179b42533f9ca5bca
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://purl.org/dc/terms/description
[We present a hierarchical strategy for mutation screening for diagnostic testing for OA1 that comprises two tiers: first, multiplex PCR to detect intragenic deletions in the OA1 gene with denaturing high-performance liquid chromatography (dHPLC), and, second, heteroduplex analysis with dHPLC to scan for mutations, with subsequent sequencing of variants to confirm putative mutations in the OA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12180081
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/dc/terms/created
2016-05-13T12:44:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP364676.RAR2oOmqdFBfWkNzn5poRCVKv-cstH8doD00BMVEQzzmw
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0