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 Kang, Hyeon Ho Kim, Murim Choi


https://youtu.be/mpntxrm_ZeY