Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.A224V
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NDUFS2

NM_001377299.1:p.A224V

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

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

Dang QL et al.

Life (basel, Switzerland), 2020

Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.

Barshad G et al.

Scientific Reports, 2019

Clinical and molecular findings in children with complex I deficiency.

Bugiani M et al.

Biochimica Et Biophysica Acta, 2004

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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."