Varaico: Literature-Extracted Genetic Variants

Gene:PDIA2
Variant:p.G177R
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PDIA2

NM_006849.4:p.G177R

Associated Papers

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Schlotawa L et al.

Human Mutation, 2008

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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."