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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FBXL4

Variant:p.C558Y

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FBXL4

NM_001278716.2:p.C558Y

hg38:chr6:98875444 C>T

Associated Papers

Short telomeres in mitochondrial DNA depletion disorders.

Dille Y et al.

Mitochondrion, 2026

41679577 (PubMed )

Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial.

Berrahmoune S et al.

Journal of Neurology, 2025

40175578 (PubMed )

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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."