Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.A275T
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CPT1C

NM_001199753.2:p.A275T

Associated Papers

Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

Bennett MJ et al.

Molecular Genetics and Metabolism, 2004

Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

Gobin S et al.

The Journal of Biological Chemistry, 2003

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF et al.

Journal of Lipid Research, 2001

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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."