Analysis of Rare Variant c.2395C>T (p.Arg799Trp) in Gene ERCC4 in Breast Cancer Patients from Bashkortostan
Author:
Publisher
Pleiades Publishing Ltd
Subject
Genetics
Link
https://link.springer.com/content/pdf/10.1134/S1022795420050026.pdf
Reference26 articles.
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2. Kashiyama, K., Nakazawa, Y., Pilz, D.T., et al., Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia, Am. J. Hum. Genet., 2013, vol. 92, pp. 807—819. https://doi.org/10.1016/j.ajhg.2013.04.007
3. Bogliolo, M., Schuster, B., Stoepker, C., et al., Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia, Am. J. Hum. Genet., 2013, vol. 92, pp. 800—806. https://doi.org/10.1016/j.ajhg.2013.04.002
4. Ferri, D., Orioli, D., and Botta, E., Heterogeneity and overlaps in nucleotide excision repair disorders,Clin. Genet., 2020, vol. 97, pp. 12—24. https://doi.org/10.1111/cge.13545
5. Marín, M., Ramírez, M.J., Carmona, M.A., et al., Functional comparison of XPF missense mutations associated to multiple DNA repair disorders,Genes, 2019, vol. 10. pii. E60. https://doi.org/10.3390/genes10010060
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