Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.E89K
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NHP2

NM_017838.4:p.E89K

Associated Papers

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Sürücü Kara İ et al.

Molecular Syndromology, 2025

Idiopathic non-cirrhotic portal hypertension in dyskeratosis congenita with rare variant of NHP2.

Niu Q et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

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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."