Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.N190S
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NT5E

NM_002526.4:p.N190S

Associated Papers

Structure of pyrimidine 5'-nucleotidase type 1. Insight into mechanism of action and inhibition during lead poisoning.

Bitto E et al.

The Journal of Biological Chemistry, 2006

Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.

Kanno H et al.

British Journal of Haematology, 2004

Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.

Bianchi P et al.

British Journal of Haematology, 2003

Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.

Chiarelli LR et al.

Blood Cells, Molecules & Diseases, 0

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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."