Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.R243H
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CPT1C

NM_001199753.2:p.R243H

Associated Papers

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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

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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."