Varaico: Literature-Extracted Genetic Variants

Gene:MRPS12
Variant:p.L85H
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MRPS12

NM_033362.4:p.L85H

Associated Papers

Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?

Vila-Sanjurjo A et al.

Frontiers in Physiology, 2023

Phenotypic suppression of the Drosophila mitochondrial disease-like mutant tko(25t) by duplication of the mutant gene in its natural chromosomal context.

Kemppainen E et al.

Mitochondrion, 2009

Mitochondrial disease in flies.

Jacobs HT et al.

Biochimica Et Biophysica Acta, 2004

Technical knockout, a Drosophila model of mitochondrial deafness.

Toivonen JM et al.

Genetics, 2001

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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."