Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.P50H
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ETFDH

NM_004453.4:p.P50H

Associated Papers

Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.

Lu CH et al.

Molecular Genetics and Metabolism Reports, 2024

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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."