Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.G114Splc
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CPT2

NM_000098.3:p.G114Splc

Associated Papers

Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.

Yao M et al.

World Journal of Gastroenterology, 2023

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.

Joshi PR et al.

Molecules (basel, Switzerland), 2020

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.

Motlagh Scholle L et al.

International Journal of Molecular Sciences, 2019

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Isackson PJ et al.

Molecular Genetics and Metabolism, 2006

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

Sigauke E et al.

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

A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.

Deschauer M et al.

Molecular Genetics and Metabolism, 2003

A splice-junction mutation responsible for familial apolipoprotein A-II deficiency.

Deeb SS et al.

American Journal of Human Genetics, 1990

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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."