Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.S593T
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ALDH18A1

NM_002860.4:p.S593T

Associated Papers

Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation.

Shan D et al.

Stem Cell Research, 2025

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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."