Varaico: Literature-Extracted Genetic Variants

Gene:PSMC5
Variant:p.R44W
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PSMC5

NM_002805.6:p.R44W

Associated Papers

Pathogenic variants at the N-terminal arginine residue 44 disrupt human GABA transporter 1 function: insights from Drosophila epilepsy models.

Shah N et al.

Frontiers in Pharmacology, 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."