Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.D277G
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NT5C3A

NM_016489.14:p.D277G

Associated Papers

[Two novel mutations (c.830A>G, c.252+1G>A) in NT5C3A associated with hereditary pyrimidine 5'-nucleotidase deficiency: two cases report and literature review].

Li Y et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

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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."