Varaico: Literature-Extracted Genetic Variants

Gene:UQCC2
Variant:p.R8P
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UQCC2

NM_032340.4:p.R8P

Associated Papers

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

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

Feichtinger RG et al.

Oxidative Medicine and Cellular Longevity, 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."