http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#head
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#assertion
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#provenance
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#assertion
http://rdf.disgenet.org/resource/gda/DGNcbf836722d9caa580a7f52ade83cc356
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5077
http://rdf.disgenet.org/resource/gda/DGNcbf836722d9caa580a7f52ade83cc356
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0344559
http://rdf.disgenet.org/resource/gda/DGNcbf836722d9caa580a7f52ade83cc356
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#provenance
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#assertion
http://purl.org/dc/terms/description
[To investigate this possibility further, we have analyzed the DNA-binding properties of additional point mutants in the Pax-3 paired domain and homeodomain that occur in WS patients (F12L, N14H, G15S, P17L, R23L, G48A, S51F and G66D in the paired domain, V47F and R53G in the homeodomain), the Pax-1 un mutation (G15A) and a substitution associated with Peters' anomaly in the PAX-6 gene (R23G).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#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/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9302254
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#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/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/dc/terms/created
2017-10-17T13:15:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP788088.RARav9HnMT4tDKhnilOOdAhMDcIGI-sI0d0zyAjNFbLs4
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