Varaico: Literature-Extracted Genetic Variants

Gene:ISCA1
Variant:p.V10G
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ISCA1

NM_030940.4:p.V10G

Associated Papers

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

Camponeschi F et al.

Biomolecules, 2022

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Torraco A et al.

Human Molecular 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."