Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.G549_Q550delFs
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CPT2

NM_000098.3:p.G549_Q550delFs

Associated Papers

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

Lehmann D et al.

International Journal of Molecular Sciences, 2017

Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.

Lehmann D et al.

Journal of the Neurological Sciences, 2014

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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."