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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Tamara Martin1, Kathrin Rommel2, Carina Thomas2
1Zentrum für Seltene Erkrankungen und Institut für Medizinische Genetik und Angewandte Genomik, Universität und Universitätsklinikum Tübingen, Tübingen, Deutschland.
Germany is implementing ORPHAcode, a rare disease coding system, to improve data collection for rare disease incidence and prevalence. This initiative aims to enhance resource allocation and scientific knowledge generation for rare conditions.
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