http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#head
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#assertion
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#provenance
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#assertion
http://rdf.disgenet.org/resource/gda/DGN25d83e940cc1fe78e967c66e7715cf7f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/286077
http://rdf.disgenet.org/resource/gda/DGN25d83e940cc1fe78e967c66e7715cf7f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0002452
http://rdf.disgenet.org/resource/gda/DGN25d83e940cc1fe78e967c66e7715cf7f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#provenance
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#assertion
http://purl.org/dc/terms/description
[The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three Chilean families and identify causal mutations in the FAM83H gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#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/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26142250
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#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/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/dc/terms/created
2017-10-17T13:19:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1424991.RAn-o5LAZF121yE68tRxO5j4KUB68btspZTx8oow9myJk
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