Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.N12I
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PNP

NM_000270.4:p.N12I

Associated Papers

Effect of l-serine and magnesium ions on the functional properties of human phosphoserine phosphatase and its pathogenetic variants.

Marchesani F et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024

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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."