Varaico: Literature-Extracted Genetic Variants

Gene:MRM2
Variant:p.G189G
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MRM2

NM_013393.3:p.G189G

Associated Papers

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

Shafique A et al.

Journal of Medical Genetics, 2023

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."