Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.G8fs
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COX20

NM_198076.6:p.G8fs

Associated Papers

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.

Chen L et al.

Bmc Medical Genomics, 2023

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Dong HL et al.

Brain : a Journal of Neurology, 2021

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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."