Varaico: Literature-Extracted Genetic Variants

Gene:CPT1C
Variant:p.R631C
Back to variants list

CPT1C

NM_001199753.2:p.R631C

Associated Papers

Whole-Exome Sequencing Identifies a Novel CPT2 Mutation in a Pedigree With Gout.

Guo Y et al.

Frontiers in Cell and Developmental Biology, 2022

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

Joshi PR et al.

Molecules (basel, Switzerland), 2020

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

Corti S et al.

Journal of the Neurological Sciences, 2008

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

Sigauke E et al.

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

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Taggart RT et al.

Human Mutation, 1999

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis.

McGarry JD et al.

European Journal of Biochemistry, 1997

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Bonnefont JP et al.

Molecular Aspects of Medicine, 0

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."