Varaico: Literature-Extracted Genetic Variants

Gene:ALDH18A1
Variant:p.P275S
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ALDH18A1

NM_002860.4:p.P275S

Associated Papers

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Negahdar M et al.

Molecular and Cellular Endocrinology, 2014

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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."