Varaico: Literature-Extracted Genetic Variants

Gene:ACSF3
Variant:p.S332L
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ACSF3

NM_001243279.3:p.S332L

Associated Papers

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.

Curry J et al.

Seizure, 2025

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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."