Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.V342A
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NNT

NM_182977.3:p.V342A

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

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Al-Hamed MH et al.

Molecular Genetics & Genomic Medicine, 2025

Familial Glucocorticoid Deficiency Type 4 Caused by a Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase (NNT) Gene: A Clinical Report of Two Siblings.

Alquraishi AS et al.

Cureus, 2025

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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."