Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.R498L
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CPT2

NM_000098.3:p.R498L

Associated Papers

Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.

Zhang Y et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2024

Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report.

Hao L et al.

Molecular Genetics and Metabolism, 2024

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.

Shao L et al.

Medicine, 2019

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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."