Varaico: Literature-Extracted Genetic Variants

Gene:CPT1B
Variant:p.S38fs
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CPT1B

NM_152246.3:p.S38fs

Associated Papers

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.

Sigauke E et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003

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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."