Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.K455T
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CPT1A

NM_001876.4:p.K455T

Associated Papers

Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers ApoB-Containing Lipoproteins in Mice.

Helsley RN et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

Hepatic Inactivation of Carnitine Palmitoyltransferase 1a Lowers Apolipoprotein B Containing Lipoproteins in Mice.

Helsley RN et al.

Biorxiv : the Preprint Server for Biology, 2024

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.

Gan Y et al.

Italian Journal of Pediatrics, 2021

Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.

Doshi BS et al.

American Journal of Blood Research, 2014

Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

Roomets E et al.

The Journal of Pediatrics, 2012

Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency.

Ylitalo K et al.

American Journal of Obstetrics and Gynecology, 2005

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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."