Varaico: Literature-Extracted Genetic Variants

Gene:GFM1
Variant:p.C516R
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GFM1

NM_024996.7:p.C516R

Associated Papers

Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.

Ahmad B et al.

International Journal of Biological Macromolecules, 2025

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

Barcia G et al.

Human Mutation, 2020

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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."