http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#head
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#assertion
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#provenance
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#assertion
http://rdf.disgenet.org/resource/gda/DGN3ac90f3d43b83ed23f4b9c7f9515c4ca
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1634
http://rdf.disgenet.org/resource/gda/DGN3ac90f3d43b83ed23f4b9c7f9515c4ca
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0432211
http://rdf.disgenet.org/resource/gda/DGN3ac90f3d43b83ed23f4b9c7f9515c4ca
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#provenance
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#assertion
http://purl.org/dc/terms/description
[A four-generation kindred (14 affected and 10 unaffected members) from Missouri, U.S.A. in which spondyloepimetaphyseal dysplasia (SEMD) had been inherited as an autosomal dominant disorder was investigated for linkage to 13 candidate loci: COL2AI, COL9AI, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, PSACH, FGFR3, decorin, CRTL1, COMP, and PTHRP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#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/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9258750
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#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/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/dc/terms/created
2017-10-17T13:11:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP277004.RAQDW1832cQEq-ugvBkbUkOUb2HSjYyq_v3_xHHJu0x5s
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