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- source_evidence_literature type ECO_0000212 NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_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." NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_assertion evidence source_evidence_literature NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_assertion SIO_000772 23314057 NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_assertion wasDerivedFrom befree-20150227 NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_assertion wasGeneratedBy ECO_0000203 NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP781256.RAXlvgZydKm-kFVfwTNzWgrUP_Z9CnvyDsmJlC3bkHYWs130_provenance.