Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.L178F
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CPT2

NM_000098.3:p.L178F

Associated Papers

Successful orthotopic heart transplantation in CPTII deficiency.

Arnold GL et al.

Molecular Genetics and Metabolism, 2021

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

Corti S et al.

Journal of the Neurological Sciences, 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

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

Thuillier L et al.

Human Mutation, 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."