http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#head
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#assertion
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#provenance
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#assertion
http://rdf.disgenet.org/resource/gda/DGNa1bd81131fbf1098b7b16c6e5b0e2480
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5125
http://rdf.disgenet.org/resource/gda/DGNa1bd81131fbf1098b7b16c6e5b0e2480
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0206762
http://rdf.disgenet.org/resource/gda/DGNa1bd81131fbf1098b7b16c6e5b0e2480
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#provenance
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#assertion
http://purl.org/dc/terms/description
[We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#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/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18519639
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#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/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/dc/terms/created
2017-10-17T13:15:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP792803.RAAXx0sB59FgcJSlkSw6LgLkqD3yyrfG8eGpTh-5pyYQo
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