Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.E645*
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CPT2

NM_000098.3:p.E645*

Associated Papers

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Tajima G et al.

Journal of Human Genetics, 2019

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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."