Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.A125S
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ACAA2

NM_006111.3:p.A125S

Associated Papers

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

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report.

Guo J et al.

World Journal of Clinical Cases, 2021

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