Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA10
Variant:p.M1V
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NDUFA10

NM_004544.4:p.M1V

Associated Papers

Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.

Dar GM et al.

Ageing Research Reviews, 2023

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

Minoia F et al.

Jimd Reports, 2017

Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.

Iommarini L et al.

The International Journal of Biochemistry & Cell Biology, 2013

Molecular base of biochemical complex I deficiency.

Hoefs SJ et al.

Mitochondrion, 2012

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ et al.

European Journal of Human Genetics : Ejhg, 2011

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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."