http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#head
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#assertion
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#provenance
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#assertion
http://rdf.disgenet.org/resource/gda/DGN9641daa6d3b6295dfae4278117b18b48
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5781
http://rdf.disgenet.org/resource/gda/DGN9641daa6d3b6295dfae4278117b18b48
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0041409
http://rdf.disgenet.org/resource/gda/DGN9641daa6d3b6295dfae4278117b18b48
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#provenance
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#assertion
http://purl.org/dc/terms/description
[The authors reported the case of a 38-year-old female patient with AN who met the van der Burgt criteria for NS with confirmed (a) comorbidity of AN and NS and (b) the absence of the most common mutation in PTPN11 and presence of a novel T?>?A transversion within intron 8-9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#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/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24089313
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#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/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/dc/terms/created
2017-10-17T13:15:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP886962.RA911PRj9VtLcn_-zTK1Dtv_rcLRxm7uuFDGj8agFF2gE
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