Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.Q288*
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MGME1

NM_052865.4:p.Q288*

Associated Papers

Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial Disease.

Acikgoz NB et al.

American Journal of Medical Genetics. Part A, 2026

A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.

da Silva Rocha EB et al.

Neuromuscular Disorders : Nmd, 2023

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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."