http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#head
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#assertion
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#provenance
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#assertion
http://rdf.disgenet.org/resource/gda/DGNd30200c6b40ec88aaddaa873be68df8d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6925
http://rdf.disgenet.org/resource/gda/DGNd30200c6b40ec88aaddaa873be68df8d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1970431
http://rdf.disgenet.org/resource/gda/DGNd30200c6b40ec88aaddaa873be68df8d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#provenance
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#assertion
http://purl.org/dc/terms/description
[The findings in our family support the notion that the position of the mutation in TCF4 is relevant to the phenotype, with those mutations in the 5' region, cassette exons and regions not affecting the important functional domains being linked to NSID rather than PTHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#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/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/27132474
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#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/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/dc/terms/created
2017-10-17T13:16:33+02:00
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP999639.RAtGWrBki2ISOn_-xTLOLmElBsfICLr66KPqTEOzRQQTA
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