Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V374fs
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ACAT1

NM_000019.4:p.V374fs

Associated Papers

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

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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."