Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.S139delFs
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ACAT1

NM_000019.4:p.S139delFs

Associated Papers

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Vasco A et al.

International Journal of Neonatal Screening, 2025

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