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A battery of early mutations reported by the three papers were archived in the OMIM database (#MIM:603377, As we were the only one of few laboratories performing mutation analysis for SLC22A5 at that time, we have the privilege to work with colleagues from Asia regions and other part of the World to understand the mutation spectrum and also describe new features of this disease

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doi: 10.3390/j7040029

This project was supported by the Department of Technology Strategy and Innovation, which played a central role in fostering a collaborative environment through an open innovation framework that enabled a truly transdisciplinary effort