Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_assertion wasGeneratedBy ECO_0000203 NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_assertion wasDerivedFrom befree-20150227 NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_assertion SIO_000772 19723756 NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_assertion evidence source_evidence_literature NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.
- NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_assertion description "[A novel missense HDR-associated GATA3 mutation, Thr272Ile, has been identified and shown to result in reduced DNA binding, a partial loss of FOG2 interaction, and a decrease in gene transcription.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419370.RAeXsoTqnTf6w_5WQMiHYnrQ6F78CEwdzRPLlc4wDNjRU130_provenance.