http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#head
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#assertion
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#provenance
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#assertion
http://rdf.disgenet.org/resource/gda/DGNa5616f5db19823114fd5aa3502308b2f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2243
http://rdf.disgenet.org/resource/gda/DGNa5616f5db19823114fd5aa3502308b2f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268382
http://rdf.disgenet.org/resource/gda/DGNa5616f5db19823114fd5aa3502308b2f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#provenance
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#assertion
http://purl.org/dc/terms/description
[The fibrinogen alpha-chain gene mutation (Val 526) is the genetic defect responsible for hereditary renal amyloidosis in these two kindreds, and the mutant genes in the Val 526 kindreds may have been derived from a single founder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#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/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8944230
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#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/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/dc/terms/created
2017-10-17T13:12:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP392715.RAKipaYNg9Paw33LCsH1L3ChqEFYxYzZi7hKHNEMw479s
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