chromosomal translocations

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
Tamar Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, Yael Goldberg, Nivin Moustafa, Yariv Carasso, Miora Feinstien, Adi Mory, Gili Reznick-Levi, Claudia Gonzaga-Jauregui, Alan R Shuldiner, Lina Basel-Salmon, Yishai Ofran, Elizabeth E Half, Hagit Baris Feldman

Journal of Medical Genetics Jul 2020, 57 (7) 500-504; DOI: 10.1136/jmedgenet-2018-105824

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chromosomal translocations