Varaico: Literature-Extracted Genetic Variants

Gene:COQ7
Variant:p.K200Fs
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COQ7

NM_016138.5:p.K200Fs

Associated Papers

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

Jacquier A et al.

Brain : a Journal of Neurology, 2023

36454683 (PubMed )
Supplement: awac453_supplementary_data.zip › brain-2022-01403-File009.pdf

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

Smith IC et al.

Neurology. Genetics, 2023

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