http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#head
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#assertion
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#provenance
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#assertion
http://rdf.disgenet.org/resource/gda/DGN570995fcf33a774a6dacd77b8940951b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2624
http://rdf.disgenet.org/resource/gda/DGN570995fcf33a774a6dacd77b8940951b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0024236
http://rdf.disgenet.org/resource/gda/DGN570995fcf33a774a6dacd77b8940951b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#provenance
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#assertion
http://purl.org/dc/terms/description
[Our data expand the phenotypes associated with germline GATA2 mutations to include predisposition to primary lymphedema and suggest that complete haploinsufficiency or loss of function of GATA2, rather than missense mutations, is the key predisposing factor for lymphedema onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#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/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22147895
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#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/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/dc/terms/created
2017-10-17T13:12:55+02:00
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP430168.RAlttA_vU9fnO708x1fWo-DXmNK2MFrmqjIT2leicK3VY
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