Varaico: Literature-Extracted Genetic Variants

Gene:PRDM6
Variant:p.E60insFs
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PRDM6

NM_001136239.4:p.E60insFs

Associated Papers

Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.

Martín MA et al.

Human Mutation, 2000

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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."