Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.W278R
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COQ2

NM_001358921.2:p.W278R

Associated Papers

Primary Coenzyme Q10 Deficiency: An Update.

Mantle D et al.

Antioxidants (basel, Switzerland), 2023

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Schijvens AM et al.

Kidney International Reports, 2020

33305107 (PubMed )
Supplement: mmc1.pdf

A steroid-resistant nephrotic syndrome in an infant resulting from a consanguineous marriage with COQ2 and ARSB gene mutations: a case report.

Wu X et al.

Bmc Medical Genetics, 2019

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