Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_assertion description "[We show that germline mutations in human MIB1 (mindbomb homolog 1), which encodes an E3 ubiquitin ligase that promotes endocytosis of the NOTCH ligands DELTA and JAGGED, cause LVNC in autosomal-dominant pedigrees, with affected individuals showing reduced NOTCH1 activity and reduced expression of target genes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_assertion evidence source_evidence_literature NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_assertion SIO_000772 23314057 NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_assertion wasDerivedFrom befree-20150227 NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_assertion wasGeneratedBy ECO_0000203 NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP595686.RA9OsA4isdJx-kBaQeYLVa6hGgyvZCS7SnXhkGEvAB3kY130_provenance.