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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACADS

Variant:p.N180D

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ACADS

NM_000017.4:p.N180D

hg38:chr12:120737902 A>G

Associated Papers

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Sharpe AJ et al.

Cells, 2018

29882869 (PubMed )

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