Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.E1081E
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SETD2

NM_014159.7:p.E1081E

Associated Papers

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.

Ziemian M et al.

International Journal of Molecular Sciences, 2025

Fetal and obstetrics manifestations of mitochondrial diseases.

Adelizzi A et al.

Journal of Translational Medicine, 2024

The Role of Mitochondrial Dysfunction in Vascular Disease, Tumorigenesis, and Diabetes.

Zhunina OA et al.

Frontiers in Molecular Biosciences, 2021

An evolutionary, or "Mitocentric" perspective on cellular function and disease.

Brown JA et al.

Redox Biology, 2020

Respiratory chain complex III deficiency in patients with tRNA-leu mutation.

Jiang J et al.

Genetics and Molecular Research : Gmr, 2015

Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.

White K et al.

Embo Molecular Medicine, 2015

OXPHOS dysfunction regulates integrin-β1 modifications and enhances cell motility and migration.

Nunes JB et al.

Human Molecular Genetics, 2015

The contribution of mitochondria to common disorders.

Enns GM

Molecular Genetics and Metabolism, 0

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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."