Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V381A
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ACAT1

NM_000019.4:p.V381A

Associated Papers

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.

Xiao Y et al.

The Tohoku Journal of Experimental Medicine, 2025

[Clinical features and genetic analysis of three children with β-ketothiolase deficiency].

Wu X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

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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."