Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A46
Variant:p.Q283H
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SLC25A46

NM_138773.4:p.Q283H

Associated Papers

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy.

Kodal LS et al.

Frontiers in Neurology, 2022

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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."