Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.R129*
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NNT

NM_182977.3:p.R129*

Associated Papers

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Khalfallah R et al.

Annales D'endocrinologie, 2025

NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.

Roucher-Boulez F et al.

European Journal of Endocrinology, 2016

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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."