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Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH. Ng PS, et al. J Med Genet. 2022 May;59(5):481-491. doi: 10.1136/jmedgenet-2020-107471. Epub 2021 Apr 2. J Med Genet. 2022. PMID: 33811135 Free PMC article.
CHEK2 variants: linking functional impact to cancer risk.
Boonen RACM, Vreeswijk MPG, van Attikum H. Boonen RACM, et al. Trends Cancer. 2022 Sep;8(9):759-770. doi: 10.1016/j.trecan.2022.04.009. Epub 2022 May 25. Trends Cancer. 2022. PMID: 35643632 Free article. Review.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
14 results