Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.E385K
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GAD2

NM_001134366.2:p.E385K

Associated Papers

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Hu K et al.

Journal of Medical Genetics, 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."