Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.G20R
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NHP2

NM_017838.4:p.G20R

Associated Papers

The biology and management of dyskeratosis congenita and related disorders of telomeres.

Tummala H et al.

Expert Review of Hematology, 2022

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ et al.

Biochimie, 2008

Dyskeratosis congenita.

Vulliamy T et al.

Seminars in Hematology, 2006

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A et al.

Expert Reviews in Molecular Medicine, 2004

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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."