Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.R54T
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WDFY2

NM_052950.4:p.R54T

Associated Papers

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

Oppici E et al.

Biochimica Et Biophysica Acta, 2013

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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."