Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.A118T
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NHP2

NM_017838.4:p.A118T

Associated Papers

The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.

Zeng PYF et al.

Cell Reports, 2024

38412093 (PubMed )
Supplement: NIHMS1980905-supplement-9.xlsx › SuppTable4b.Germline_Data

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."