Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.D68Splc
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COQ4

NM_016035.5:p.D68Splc

Associated Papers

Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.

Schierbaum L et al.

Movement Disorders Clinical Practice, 2024

Primary Coenzyme Q10 Deficiency-Related Ataxias.

Lopriore P et al.

Journal of Clinical Medicine, 2024

Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.

Hsu CJ et al.

Epilepsy & Behavior : E&b, 2023

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

Cordts I et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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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."