Varaico: Literature-Extracted Genetic Variants

Gene:SFXN4
Variant:p.R247fs
Back to variants list

SFXN4

NM_213649.2:p.R247fs

Associated Papers

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

Courtois S et al.

Mitochondrion, 2026

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Hildick-Smith GJ et al.

American Journal of Human Genetics, 2013

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."