Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.M1I
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NT5E

NM_002526.4:p.M1I

Associated Papers

A case of arterial calcification due to CD73 deficiency (ACDC) caused by NT5E mutation in a Japanese woman.

Nakano S et al.

The Journal of Dermatology, 2025

NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis.

Uchida T et al.

Interactive Cardiovascular and Thoracic Surgery, 2022

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

Calcification of joints and arteries with novel NT5E mutations with involvement of upper extremity arteries.

Yoshioka K et al.

Vascular Medicine (london, England), 2017

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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."