Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.D999fs
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NNT

NM_182977.3:p.D999fs

Associated Papers

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

Roucher-Boulez F et al.

European Journal of Endocrinology, 2016

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O et al.

European Journal of Medical Genetics, 2015

NNT pseudoexon activation as a novel mechanism for disease in two siblings with familial glucocorticoid deficiency.

Novoselova TV et al.

The Journal of Clinical Endocrinology and Metabolism, 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."