Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.V244I
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AARS2

NM_020745.4:p.V244I

Associated Papers

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.

Fernandes J et al.

Molecular Genetics and Metabolism Reports, 2024

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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."