Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.G454R
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NT5E

NM_002526.4:p.G454R

Associated Papers

NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia.

Azuma N et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2020

Effect of two non-synonymous ecto-5'-nucleotidase variants on the genetic architecture of inosine 5'-monophosphate (IMP) and its degradation products in Japanese Black beef.

Uemoto Y et al.

Bmc Genomics, 2017

Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype.

Zhang Z et al.

Journal of Human Genetics, 2015

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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."