Varaico: Literature-Extracted Genetic Variants

Gene:GABPA
Variant:p.N216I
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GABPA

NM_002040.4:p.N216I

Associated Papers

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.

Iyer S et al.

Disease Models & Mechanisms, 2019

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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."