Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.A196G
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NNT

NM_182977.3:p.A196G

Associated Papers

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.

Meimaridou E et al.

Nature Genetics, 2012

22634753 (PubMed )
Supplement: NIHMS48043-supplement-1.pdf
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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."