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Novel Mutation clinical trials

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NCT ID: NCT03589079 Recruiting - Genetic Disorder Clinical Trials

Delineation of Novel Monogenic Disorders in the United Arab Emirates Population

Start date: January 1, 2018
Phase:
Study type: Observational

The study aims to identify novel monogenic phenotypes from specific pedigrees and discover the underlying causal genetic variant using genetic sequencing (Sanger and/or Next Generation Sequencing - Panel/WES/WGS) methodologies in families across the United Arab Emirates (UAE).