Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.S608F
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COQ8A

NM_020247.5:p.S608F

Associated Papers

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J et al.

Cerebellum (london, England), 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

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

Shalata A et al.

Neurochemical Research, 2019

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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."