Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.R360W
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COQ6

NM_182476.3:p.R360W

Associated Papers

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.

Wang S et al.

Antioxidants (basel, Switzerland), 2022

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

Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.

Li GM et al.

Bmc Nephrology, 2018

CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report.

Stańczyk M et al.

Pediatric Nephrology (berlin, Germany), 2018

[Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature review].

Cao Q et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."