Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.R223*
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IBA57

NM_001010867.4:p.R223*

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

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

Lebigot E et al.

Biomedicines, 2021

Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Maio N et al.

Trends in Biochemical Sciences, 2020

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K et al.

Journal of Human Genetics, 2018

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.

Liu M et al.

Clinical Genetics, 2018

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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."