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Schroeder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Goekhan, Altmueller, Janine, Boltshauser, Eugen, Doerk, Thilo and Brockmann, Knut (2020). Evidence of pathogenicity for the leaky splice variant c.1066-6T>G inATM. Am. J. Med. Genet. A, 182 (12). S. 2971 - 2976. HOBOKEN: WILEY. ISSN 1552-4833

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