Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.K149R
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COQ7

NM_001370489.1:p.K149R

Associated Papers

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.

Rebelo AP et al.

Brain : a Journal of Neurology, 2023

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

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."