Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- NP3891.RApjVTUFYuAlOooKgb6npdiuvwdlZRBmDcorOCZsY-PnE130_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." NP3891.RApjVTUFYuAlOooKgb6npdiuvwdlZRBmDcorOCZsY-PnE130_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.