Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.R554*
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CPT2

NM_000098.3:p.R554*

Associated Papers

A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.

Tran TCM et al.

Molecular Genetics and Metabolism Reports, 2024

SNPs in Mammary Gland Epithelial Cells Unraveling Potential Difference in Milk Production Between Jersey and Kashmiri Cattle Using RNA Sequencing.

Ahmad SM et al.

Frontiers in Genetics, 2021

34413874 (PubMed )
Supplement: Table_5.xlsx › SNPs

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.

Corti S et al.

Journal of the Neurological Sciences, 2008

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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."