Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.K64del1
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COQ6

NM_182476.3:p.K64del1

Associated Papers

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants.

Nam DW et al.

Biomed Research International, 2022

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants.

Wang N et al.

Frontiers in Genetics, 2021

Clinical syndromes associated with Coenzyme Q10 deficiency.

Alcázar-Fabra M et al.

Essays in Biochemistry, 2018

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss.

Park E et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2017

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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."