Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.Y32*
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CPT1A

NM_001876.4:p.Y32*

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

Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

Ogawa E et al.

Journal of Human Genetics, 2002

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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."