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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


Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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