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Inborn Errors of Metabolism clinical trials

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NCT ID: NCT04399694 Suspended - Genetic Disease Clinical Trials

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

Start date: March 3, 2020
Phase:
Study type: Observational

The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.