Varaico: Literature-Extracted Genetic Variants

Gene:LIAS
Variant:p.R4H
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LIAS

NM_006859.4:p.R4H

Associated Papers

Vanishing white matter in multiple mitochondrial dysfunction syndrome-2 due to compound heterozygosity for novel BOLA3 variants.

Finsterer J

Revue Neurologique, 2023

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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."