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NBS1

Thursday 19 August 2004

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

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