Varaico: Literature-Extracted Genetic Variants

Gene:CYC1
Variant:p.L215F
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CYC1

NM_001916.5:p.L215F

Associated Papers

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

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

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

Riley LG et al.

Molecular Genetics and Metabolism, 2022

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

Mukherjee S et al.

Mitochondrion, 2020

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.

Anastasio N et al.

Jimd Reports, 2017

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Fernández-Vizarra E et al.

Frontiers in Genetics, 2015

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Gaignard P et al.

American Journal of Human Genetics, 2013

[Complex III deficiency due to mutations in the cytochrome b gene].

Ishii A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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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."