Varaico: Literature-Extracted Genetic Variants

Gene:BOLA3
Variant:p.E42fs
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BOLA3

NM_212552.3:p.E42fs

Associated Papers

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

Lebigot E et al.

Biomedicines, 2021

Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.

Zhang W et al.

Biophysics Reports, 2021

Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.

Maio N et al.

Biochimica Et Biophysica Acta, 2015

Mitochondrial iron-sulfur protein biogenesis and human disease.

Stehling O et al.

Biochimie, 2014

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Cameron JM et al.

American Journal of Human Genetics, 2011

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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."