Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.I519V
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NDUFS1

NM_005006.7:p.I519V

Associated Papers

Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing.

Khotina VA et al.

Biomedicines, 2023

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.

Mahmud S et al.

Current Issues in Molecular Biology, 2022

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Inherited mitochondrial disorders.

Finsterer J

Advances in Experimental Medicine and Biology, 2012

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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."