Varaico: Literature-Extracted Genetic Variants

Gene:SFXN4
Variant:p.*338Q
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SFXN4

NM_213649.2:p.*338Q

Associated Papers

Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.

Courtois S et al.

Mitochondrion, 2026

Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency.

Sofou K et al.

Mitochondrion, 2019

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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."