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Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia
Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia
2021
Simone Schröder
Britta Wieland
Andreas Ohlenbusch
Gökhan Yigit
Janine Altmüller
Eugen Boltshauser
Thilo Dörk
Knut Brockmann
Keywords:
Alternative splicing
Pathogenicity
Medicine
Ataxia-telangiectasia
Genetics
Correction
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