Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion> ?p ?o ?g. }
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- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion type Assertion NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_head.
- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion wasGeneratedBy ECO_0000218 NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_provenance.
- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion wasDerivedFrom uniprot-2016 NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_provenance.
- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion SIO_000772 22265016 NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_provenance.
- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_assertion evidence source_evidence_curated NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_provenance.
- NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_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." NP6920.RAN-M2CWqkqJCAUj6tk-qa8FmDZULN5GhpbVuWQNd2Jpk130_provenance.