Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC2
Variant:p.L89fs
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UQCRC2

NM_003366.4:p.L89fs

Associated Papers

De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.

Lou X et al.

Gene, 2023

Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.

McKenzie M et al.

Human Mutation, 2014

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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."