Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_assertion wasGeneratedBy ECO_0000203 NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_assertion wasDerivedFrom befree-20140225 NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_assertion SIO_000772 22265016 NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_assertion evidence source_evidence_literature NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_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." NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP690037.RAFwF0Jqj56OeQzdaGKZq4o8mNhoPnzz78erYWeksjXVE130_provenance.