Varaico: Literature-Extracted Genetic Variants

Gene:BOLA3
Variant:p.C59Y
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BOLA3

NM_212552.3:p.C59Y

Associated Papers

Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.

Iijima H et al.

Molecular Genetics and Metabolism, 2025

Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.

Bargagna B et al.

International Journal of Molecular Sciences, 2023

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Stutterd CA et al.

European Journal of Medical Genetics, 2022

Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.

Camponeschi F et al.

Biomolecules, 2022

A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.

Lebigot E et al.

Biomedicines, 2021

Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.

Saudino G et al.

International Journal of Molecular Sciences, 2021

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Stutterd CA et al.

Jimd Reports, 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."