Varaico: Literature-Extracted Genetic Variants

Gene:TIMM50
Variant:p.R114Q
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TIMM50

NM_001001563.5:p.R114Q

Associated Papers

Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

Jain S et al.

Genes, 2024

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

Crameri JJ et al.

Molecular and Cellular Biology, 2024

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.

Palmer CS et al.

Febs Letters, 2021

From TOM to the TIM23 complex - handing over of a precursor.

Callegari S et al.

Biological Chemistry, 2020

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.

Tort F et al.

Human Mutation, 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."