Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.G200Splc
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NNT

NM_182977.3:p.G200Splc

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

Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.

Buonocore F et al.

Journal of the Endocrine Society, 2021

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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."