Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA2
Variant:p.A70Splc
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NDUFA2

NM_002488.5:p.A70Splc

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

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

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder.

Alagia M et al.

Jimd Reports, 2020

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S et al.

Clinical Genetics, 2018

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Koene S et al.

Journal of Inherited Metabolic Disease, 2012

22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1

Molecular base of biochemical complex I deficiency.

Hoefs SJ et al.

Mitochondrion, 2012

NDUFA2 complex I mutation leads to Leigh disease.

Hoefs SJ et al.

American Journal of Human Genetics, 2008

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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."