Varaico: Literature-Extracted Genetic Variants

Gene:MRPL24
Variant:p.L91P
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MRPL24

NM_145729.3:p.L91P

Associated Papers

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.

Antolínez-Fernández Á et al.

Frontiers in Cell and Developmental Biology, 2024

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.

Di Nottia M et al.

Neurobiology of Disease, 2020

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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."