Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Ofir T. Betsalel, Efraim H. Rosenberg, Ligia S. Almeida, Tjitske Kleefstra, Charles E. Schwartz, Vassili Valayannopoulos, Omar Abdul-Rahman, Nicola Poplawski, Laura Vilarinho, Philipp Wolf, Johan T. Den Dunnen, Cornelis Jakobs, Gajja S. Salomons

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Medicine & Life Sciences