Varaico: Literature-Extracted Genetic Variants

Gene:NNT
Variant:p.R213insFs
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NNT

NM_182977.3:p.R213insFs

Associated Papers

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Bainbridge MN et al.

Circulation. Cardiovascular Genetics, 2015

ACTH resistance: genes and mechanisms.

Meimaridou E et al.

Endocrine Development, 2013

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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."