Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.G115A
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NHP2

NM_017838.4:p.G115A

Associated Papers

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.

Maliński B et al.

Human Molecular Genetics, 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."