Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.K63_K64del1
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COQ6

NM_182476.3:p.K63_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

Cellular Models for Primary CoQ Deficiency Pathogenesis Study.

Santos-Ocaña C et al.

International Journal of Molecular Sciences, 2021

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."