http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#head
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#assertion
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#provenance
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#assertion
http://rdf.disgenet.org/resource/gda/DGN2c728b7cf6ca121db0dfbe68986a1a1e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5159
http://rdf.disgenet.org/resource/gda/DGN2c728b7cf6ca121db0dfbe68986a1a1e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0206648
http://rdf.disgenet.org/resource/gda/DGN2c728b7cf6ca121db0dfbe68986a1a1e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#provenance
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#assertion
http://purl.org/dc/terms/description
[Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#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/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26279204
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#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/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/dc/terms/created
2017-10-17T13:15:15+02:00
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP796289.RAdDuuY96X1htozynylbuWiMxJEp2thqE6E8-wAk-dIow
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