Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.A205_G206Fs
Back to variants list

COQ7

NM_016138.5:p.A205_G206Fs

Associated Papers

Fetal and obstetrics manifestations of mitochondrial diseases.

Adelizzi A et al.

Journal of Translational Medicine, 2024

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.

Pettenuzzo I et al.

European Journal of Human Genetics : Ejhg, 2024

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."