Varaico: Literature-Extracted Genetic Variants

Gene:NHP2
Variant:p.R101Q
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NHP2

NM_017838.4:p.R101Q

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

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

Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.

Chiu V et al.

Hepatology (baltimore, Md.), 2019

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Arias-Salgado EG et al.

Orphanet Journal of Rare Diseases, 2019

Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres.

Yanowsky K et al.

Breast Cancer Research and Treatment, 2012

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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."