http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#head
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#assertion
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#provenance
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#assertion
http://rdf.disgenet.org/resource/gda/DGNccb88652c91ae68fa09a81f053d44607
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1277
http://rdf.disgenet.org/resource/gda/DGNccb88652c91ae68fa09a81f053d44607
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268362
http://rdf.disgenet.org/resource/gda/DGNccb88652c91ae68fa09a81f053d44607
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#provenance
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#assertion
http://purl.org/dc/terms/description
[Because of (i) absence of COL1A1/2 mutations, (ii) a consanguineous pedigree with a similarly affected sibling and (iii) the existence of congenital joint contractures with absence of recessive variants in PLOD2, mutation analysis was performed of the FKBP10 gene, recently associated with Bruck syndrome and/or recessive OI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#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/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22085994
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#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/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/dc/terms/created
2017-10-17T13:11:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP225480.RAnVHeBNjcT_RS_xcJOpOUSbln537iZwAL1uwGXqcCdiY
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