http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#head
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#provenance
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://rdf.disgenet.org/resource/gda/DGN61a9db5c54d410179ebbd7e85f088741
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1277
http://rdf.disgenet.org/resource/gda/DGN61a9db5c54d410179ebbd7e85f088741
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0023931
http://rdf.disgenet.org/resource/gda/DGN61a9db5c54d410179ebbd7e85f088741
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#provenance
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://purl.org/dc/terms/description
[The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/27044453
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/dc/terms/created
2017-10-17T13:11:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP224909.RADDwmwQ9_mPoUbjFcgJtvk5kM6nbmoaEZcRAmGguOXM4
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0