Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.G114A
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IBA57

NM_001010867.4:p.G114A

Associated Papers

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review.

Xu J et al.

Molecular Genetics & Genomic Medicine, 2026

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.

Jiang H et al.

Journal of Human Genetics, 2025

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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."