Varaico: Literature-Extracted Genetic Variants

Gene:MRPS25
Variant:p.P72L
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MRPS25

NM_022497.5:p.P72L

Associated Papers

Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.

Chau KY et al.

Plos One, 2025

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

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

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

Bugiardini E et al.

Human Molecular Genetics, 2019

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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."