Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.E568delFs
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COQ8A

NM_020247.5:p.E568delFs

Associated Papers

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata A et al.

Neurochemical Research, 2019

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

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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."