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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEF1E1

Variant:p.V32V

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EEF1E1

NM_004280.5:p.V32V

hg38:chr6:8097459 A>T

Associated Papers

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

Nolte D et al.

Journal of Neurology, 2021

34037856 (PubMed )

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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."