Varaico: Literature-Extracted Genetic Variants

Gene:ACAA1
Variant:p.D85_I86del1
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ACAA1

NM_001607.4:p.D85_I86del1

Associated Papers

Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.

Jin JL et al.

Bmc Pediatrics, 2026

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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."