Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.Q84_K85Splc
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COQ7

NM_016138.5:p.Q84_K85Splc

Associated Papers

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Sait H et al.

Journal of Genetics, 2024

Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.

Liu XX et al.

Brain : a Journal of Neurology, 2023

Reply: Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.

Jacquier A et al.

Brain : a Journal of Neurology, 2023

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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."