NBS1
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Pathology
germline mutations in the Nijmegen breakage syndrome (NBS)
increased cancer risk of heterozygotes with NBS1 germline mutations (#15185344#)
See also
FANC/BRCA1/BRCA2/ATM/NBS1 signaling pathway
References
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. NBS1 and its functional role in the DNA damage response. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. PMID: #15279770#