Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.L57_S58Splc
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NBN

NM_002485.5:p.L57_S58Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2

Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.

Wendt C et al.

Acta Oncologica (stockholm, Sweden), 2019

Integrative clinical genomics of metastatic cancer.

Robinson DR et al.

Nature, 2017

28783718 (PubMed )
Supplement: NIHMS888166-supplement-Supplementary_Tables.pdf

An inherited NBN mutation is associated with poor prognosis prostate cancer.

Cybulski C et al.

British Journal of Cancer, 2013

Hereditary breast cancer: from molecular pathology to tailored therapies.

Tan DS et al.

Journal of Clinical Pathology, 2008

Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.

Cybulski C

Hereditary Cancer in Clinical Practice, 2007

A novel founder CHEK2 mutation is associated with increased prostate cancer risk.

Cybulski C et al.

Cancer Research, 2004

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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."