A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
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ABSTRACT:
SUBMITTER: Breza M
PROVIDER: S-EPMC7296852 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
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A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Breza Marianthi M Bourinaris Thomas T Efthymiou Stephanie S Maroofian Reza R Athanasiou-Fragkouli Alkyoni A Tzartos John J Velonakis Georgios G Karavasilis Efstratios E Angelopoulou Georgia G Kasselimis Dimitrios D Potagas Constantin C Stefanis Leonidas L Karadima Georgia G Koutsis Georgios G Houlden Henry H
Brain : a journal of neurology 20200601 6
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