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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COQ5

Variant:p.L177_K178del2

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COQ5

NM_032314.4:p.L177_K178del2

hg38:chr12:120516606 CCTTTAG>C

Associated Papers

Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum.

Wongkittichote P et al.

Jimd Reports, 2025

41199775 (PubMed )

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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."