Varaico: Literature-Extracted Genetic Variants

Gene:ACTN3
Variant:p.V444A
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ACTN3

NM_001104.4:p.V444A

Associated Papers

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.

Lupica A et al.

Frontiers in Neurology, 2022

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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."