Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
Published 2018 View Full Article
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Title
Novel pathogenic COX20
variants causing dysarthria, ataxia, and sensory neuropathy
Authors
Keywords
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Journal
Annals of Clinical and Translational Neurology
Volume 6, Issue 1, Pages 154-160
Publisher
Wiley
Online
2018-11-10
DOI
10.1002/acn3.661
References
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- (2015) Kerstin Hallmann et al. BRAIN
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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- Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
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- Presentation and Diagnosis of Mitochondrial Disorders in Children
- (2008) Mary Kay Koenig PEDIATRIC NEUROLOGY
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