Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC2
Variant:p.G222A
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UQCRC2

NM_003366.4:p.G222A

Associated Papers

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment.

Abou Haidar L et al.

Cold Spring Harbor Molecular Case Studies, 2023

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.

Burska D et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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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."