Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.N272N
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ACAA2

NM_006111.3:p.N272N

Associated Papers

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S et al.

The Tohoku Journal of Experimental Medicine, 2010

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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."