Varaico: Literature-Extracted Genetic Variants

Gene:CPT1B
Variant:p.L484P
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CPT1B

NM_152246.3:p.L484P

Associated Papers

Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.

Morillas M et al.

The Biochemical Journal, 2004

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

Bennett MJ et al.

Molecular Genetics and Metabolism, 2004

Structural model of the catalytic core of carnitine palmitoyltransferase I and carnitine octanoyltransferase (COT): mutation of CPT I histidine 473 and alanine 381 and COT alanine 238 impairs the catalytic activity.

Morillas M et al.

The Journal of Biological Chemistry, 2001

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."