Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

Sangmoon Lee, Chang Hoon Shin, Jawon Lee, Seong Dong Jeong, Che Ry Hong, Jun Dae Kim, Ah Ra Kim, Boryeong Park, Soo Jin Son, Oleksandr Kokhan, Taekyeong Yoo, Jae Sung Ko, Young Bae Sohn, Ok Hwa Kim, Jung Min Ko, Tae Joon Cho, Nathan T. Wright, Je Kyung Seong, Suk Won Jin, Hyoung Jin KangHyeon Ho Kim, Murim Choi

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