Varaico: Literature-Extracted Genetic Variants

Gene:MRPL21
Variant:p.L22L
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MRPL21

NM_181514.2:p.L22L

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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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."