Varaico: Literature-Extracted Genetic Variants

Gene:PUDP
Variant:p.P5L
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PUDP

NM_012080.5:p.P5L

Associated Papers

A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.

Bogusławska DM et al.

Cellular & Molecular Biology Letters, 2022

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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."