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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP8A2

Variant:p.A554del1

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ATP8A2

NM_016529.6:p.A554del1

hg38:chr13:25571689 AGCG>A

Associated Papers

ATP8A2-related disorders as recessive cerebellar ataxia.

Guissart C et al.

Journal of Neurology, 2020

31612321 (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."