Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.L644_E645insFs
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CPT2

NM_000098.3:p.L644_E645insFs

Associated Papers

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Fanin M et al.

Clinical Genetics, 2012

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

Corti S et al.

Journal of the Neurological Sciences, 2008

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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."