Varaico: Literature-Extracted Genetic Variants

Gene:PPARA
Variant:p.Y54C
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PPARA

NM_005036.6:p.Y54C

Associated Papers

Redox status of cysteines does not alter functional properties of human dUTPase but the Y54C mutation involved in monogenic diabetes decreases protein stability.

Szabó JE et al.

Scientific Reports, 2021

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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."