Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.F227delFs
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NBN

NM_002485.5:p.F227delFs

Associated Papers

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.

Otahalova B et al.

International Journal of Molecular Sciences, 2023

Nijmegen breakage syndrome (NBS).

Chrzanowska KH et al.

Orphanet Journal of Rare Diseases, 2012

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.

Demuth I et al.

Oncogene, 2007

Nijmegen breakage syndrome.

Kondratenko I et al.

Advances in Experimental Medicine and Biology, 2007

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

Di Masi A et al.

Genetic Testing, 2006

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.

Resnick IB et al.

The Journal of Pediatrics, 2002

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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."