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- [2] A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome European Journal of Human Genetics, 2007, 15 : 743 - 751
- [6] Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13) Annals of Hematology, 2020, 99 : 2445 - 2447