Varaico: Literature-Extracted Genetic Variants

Gene:ATRAID
Variant:p.L217P
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ATRAID

NM_001170795.4:p.L217P

Associated Papers

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia.

Nolte D et al.

Journal of Neurology, 2021

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S et al.

Human Mutation, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."