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Evidence of pathogenicity for the leaky splice variant c.1066-6T>Gâin ATM
Schröder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Gökhan, Altmüller, Janine, Boltshauser, Eugen, Dörk, Thilo, Brockmann, KnutJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61870
Date:
September, 2020
File:
PDF, 800 KB
2020