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Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
J Med Genet. 2020 Jul;57(7):500-504. doi: 10.1136/jmedgenet-2018-105824. Epub 2019 Mar 11.
J Med Genet. 2020.
PMID: 30858171
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