Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion> ?p ?o ?g. }
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- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion type Assertion NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_head.
- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_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." NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_provenance.
- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion evidence source_evidence_literature NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_provenance.
- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion SIO_000772 23314057 NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_provenance.
- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion wasDerivedFrom befree-2016 NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_provenance.
- NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_assertion wasGeneratedBy ECO_0000203 NP1043162.RAaC1c9456Nlfc_FI-4-9O1XvoZxJvynJTm8YPoQCldNs130_provenance.