Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.A32fs
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NBN

NM_002485.5:p.A32fs

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.

Belhadj S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.

Robyns T et al.

Acta Cardiologica, 2020

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

Marafie MJ et al.

Familial Cancer, 2017

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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."