Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.C326Y
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CPT2

NM_000098.3:p.C326Y

Associated Papers

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.

Joshi PR et al.

Molecules (basel, Switzerland), 2020

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

Fanin M et al.

Clinical Genetics, 2012

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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."