Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.R450*
Back to variants list

CPT2

NM_000098.3:p.R450*

Associated Papers

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

Joshi PR et al.

Molecules (basel, Switzerland), 2020

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Rubegni A et al.

Neurology. Genetics, 2019

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Anichini A et al.

Neurological Research, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."