Varaico: Literature-Extracted Genetic Variants

Gene:COX4I1
Variant:p.R22*
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COX4I1

NM_001861.6:p.R22*

Associated Papers

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.

Ugarteburu O et al.

Mitochondrion, 2026

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