Varaico: Literature-Extracted Genetic Variants

Gene:GFM1
Variant:p.G469fs
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GFM1

NM_024996.7:p.G469fs

Associated Papers

Polydatin and Nicotinamide Prevent Iron Accumulation and Lipid Peroxidation in Cellular Models of Mitochondrial Diseases.

Cilleros-Holgado P et al.

Antioxidants (basel, Switzerland), 2025

Polydatin and Nicotinamide Rescue the Cellular Phenotype of Mitochondrial Diseases by Mitochondrial Unfolded Protein Response (mtUPR) Activation.

Cilleros-Holgado P et al.

Biomolecules, 2024

UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases.

Suárez-Rivero JM et al.

Orphanet Journal of Rare Diseases, 2022

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Barcia G et al.

Human Mutation, 2020

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Bravo-Alonso I et al.

Journal of Clinical Medicine, 2019

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

Zurita-Díaz F et al.

Stem Cell Research, 2016

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.

Brito S et al.

Frontiers in Genetics, 2015

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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."