Varaico: Literature-Extracted Genetic Variants

Gene:SUCLA2
Variant:p.S124P
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SUCLA2

NM_003850.3:p.S124P

Associated Papers

Short telomeres in mitochondrial DNA depletion disorders.

Dille Y et al.

Mitochondrion, 2026

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

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Olimpio C et al.

Journal of Neuromuscular Diseases, 2024

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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."