Varaico: Literature-Extracted Genetic Variants

Gene:COA3
Variant:p.L67insFs
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COA3

NM_001040431.3:p.L67insFs

Associated Papers

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy.

Vissing CR et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

Ostergaard E et al.

Journal of Medical Genetics, 2015

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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."