Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.A227V
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SLC25A20

NM_000387.6:p.A227V

Associated Papers

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Isackson PJ et al.

Molecular Genetics and Metabolism, 2008

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003

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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."