Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.S137F
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ACAT1

NM_000019.4:p.S137F

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

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."