Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.H369Q
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CPT2

NM_000098.3:p.H369Q

Associated Papers

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

Joshi PR et al.

Molecules (basel, Switzerland), 2020

Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient.

Cho SY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

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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."