Varaico: Literature-Extracted Genetic Variants

Gene:COXFA4
Variant:p.S14_L15Splc
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COXFA4

NM_002489.4:p.S14_L15Splc

Associated Papers

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease.

Marquez J et al.

Hgg Advances, 2025

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Pitceathly RD et al.

Cell Reports, 2013

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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."