Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.G178Splc
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COQ4

NM_016035.5:p.G178Splc

Associated Papers

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Alcázar-Fabra M et al.

Molecular Genetics and Metabolism Reports, 2025

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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."