Varaico: Literature-Extracted Genetic Variants

Gene:GFM1
Variant:p.E322K
Back to variants list

GFM1

NM_024996.7:p.E322K

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

A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

You C et al.

Brain and Behavior, 2020

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Ravn K et al.

Molecular Genetics and Metabolism Reports, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."