Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0D1
Variant:p.D12N
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ATP6V0D1

NM_004691.5:p.D12N

Associated Papers

Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.

Turturo M et al.

Orphanet Journal of Rare Diseases, 2025

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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."