Varaico: Literature-Extracted Genetic Variants

Gene:NOP10
Variant:p.D12H
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NOP10

NM_018648.4:p.D12H

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

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

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Fidalgo F et al.

Plos One, 2022

35085295 (PubMed )
Supplement: pone.0262419.s002.xlsx › 288_candidate_variants

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

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Walne AJ et al.

Human Molecular Genetics, 2007

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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."