Article

Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder

2023-11-14

Abstract excerpt

<title>Abstract</title> <p>DEAD-box helicase 53 (DDX53) is a member of the DEAD-box protein family of RNA helicases. Unlike other family members that are responsible for RNA metabolism, the biological function of DDX53 and its impact on the human condition are unclear. Herein, We found 21 patients with loss-of-function variants at DDX53, of whom 19 patients exhibited neurological disorders. Notably, a local patie...

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Literature Corpus work: b660e5e5-9f1c-5575-9d75-d9c10e100102
DOI: 10.21203/rs.3.rs-3529208/v1

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