Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.I122_N123delFs
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ACAT1

NM_000019.4:p.I122_N123delFs

Associated Papers

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

41141493 (PubMed )
Supplement: mmc1.pdf

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Kahraman AB et al.

Turkish Archives of Pediatrics, 2025

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.

Fisher L et al.

Clinical Biochemistry, 2018

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