Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.D1001fs
Back to variants list

NNT

NM_182977.3:p.D1001fs

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 defects in pediatric-onset adrenal insufficiency in Japan.

Amano N et al.

European Journal of Endocrinology, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."