Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.E253E
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NT5C3A

NM_001002009.3:p.E253E

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

36434495 (PubMed )
Supplement: 11658_2022_405_MOESM1_ESM.docx

Cytosolic 5'-nucleotidase III (NT5C3): gene sequence variation and functional genomics.

Aksoy P et al.

Pharmacogenetics and Genomics, 2009

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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."