Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.D17E
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CPT1C

NM_001199753.2:p.D17E

Associated Papers

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

Zhang S et al.

Bmc Pediatrics, 2025

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Lin Y et al.

Heliyon, 2024

Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.

Zhou M et al.

Frontiers in Pediatrics, 2022

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

A characteristic Glu17 residue of pig carnitine palmitoyltransferase 1 is responsible for the low Km for carnitine and the low sensitivity to malonyl-CoA inhibition of the enzyme.

Relat J et al.

The Febs Journal, 2009

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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."