Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.F352L
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CPT2

NM_000098.3:p.F352L

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

Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.

Zhou D et al.

Frontiers in Genetics, 2022

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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."