Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.C31_A32delFs
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NBN

NM_002485.5:p.C31_A32delFs

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

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

Robyns T et al.

Acta Cardiologica, 2020

Germline mutations in lung cancer and personalized medicine.

Cetta F et al.

Familial Cancer, 2018

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."