Varaico: Literature-Extracted Genetic Variants

Gene:GUF1
Variant:p.A609S
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GUF1

NM_021927.3:p.A609S

Associated Papers

Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease.

Cao X et al.

Free Radical Biology & Medicine, 2016

West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.

Alfaiz AA et al.

European Journal of Human Genetics : Ejhg, 2016

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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."