Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.R316Q
Back to variants list

CPT1A

NM_001876.4:p.R316Q

Associated Papers

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

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Kang E et al.

Bmc Pediatrics, 2018

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

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."