Varaico: Literature-Extracted Genetic Variants

Gene:GAD2
Variant:p.K396R
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GAD2

NM_001134366.2:p.K396R

Associated Papers

Association of amino-terminal-specific antiglutamate decarboxylase (GAD65) autoantibodies with beta-cell functional reserve and a milder clinical phenotype in patients with GAD65 antibodies and ketosis-prone diabetes mellitus.

Hampe CS et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Preservation of enzyme activity and antigenicity after mutagenesis of the membrane anchoring domain of GAD65.

Plesner A et al.

Autoimmunity, 2001

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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."