Varaico: Literature-Extracted Genetic Variants

Gene:MRM2
Variant:p.G189R
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MRM2

NM_013393.3:p.G189R

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

MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.

Shafique A et al.

Journal of Medical Genetics, 2023

Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.

Magistrati M et al.

International Journal of Molecular Sciences, 2023

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Gilea AI et al.

Genes, 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

Mitochondrial DNA transcription and translation: clinical syndromes.

Boczonadi V et al.

Essays in Biochemistry, 2018

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Garone C et al.

Human Molecular Genetics, 2017

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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."