Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.D178G
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NNT

NM_182977.3:p.D178G

Associated Papers

Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.

Alwan IA et al.

Journal of Clinical & Translational Endocrinology, 2026

Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.

Li M et al.

American Journal of Medical Genetics. Part A, 2022

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

Roucher-Boulez F et al.

European Journal of Endocrinology, 2016

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.

Guran T et al.

The Journal of Clinical Endocrinology and Metabolism, 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."