http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#head
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#assertion
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#provenance
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#assertion
http://rdf.disgenet.org/resource/gda/DGN942fdfc862dde970a7d02b874c79985e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6469
http://rdf.disgenet.org/resource/gda/DGN942fdfc862dde970a7d02b874c79985e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0206762
http://rdf.disgenet.org/resource/gda/DGN942fdfc862dde970a7d02b874c79985e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#provenance
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#assertion
http://purl.org/dc/terms/description
[Gain-of-function mutations of this enhancer, which cause ectopic expression of SHH, are known to be responsible for congenital limb malformations with variable expressivity, ranging from preaxial polydactyly or triphalangeal thumbs to polysyndactyly, which may also be associated with mesomelic deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#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/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25382487
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#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/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/dc/terms/created
2017-10-17T13:16:11+02:00
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP942795.RAMIByzo4A4-LGU33Pn8e_zzxLIrLDxMJN0lgWSOAdLtA
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