Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.L383L
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ACAT1

NM_000019.4:p.L383L

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

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

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