Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.S373P
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CPT2

NM_000098.3:p.S373P

Associated Papers

Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

Ivin N et al.

Journal of the Intensive Care Society, 2020

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

Avila-Smirnow D et al.

Journal of Medical Case Reports, 2018

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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."