Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion wasGeneratedBy ECO_0000218 NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion wasDerivedFrom uniprot-20130724 NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion SIO_000772 22265016 NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion evidence source_evidence_curated NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion description "[Using a targeted capture array and next-generation sequencing, we have now identified missense mutations (c.557T>C [p.Ile186Thr] and c.566C>T [p.Pro189Leu] in RHBDF2, which encodes the inactive rhomboid protease RHBDF2 (also known as iRhom2), as the underlying cause of TOC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance.