Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
성제경, Lee, S, Shin, CH, Lee, J, Jeong, SD, Hong, CR, Kim, JD, Kim, AR, Park, B, Son, SJ, Kokhan, O, Yoo, T, Ko, JS, Sohn, YB, Kim, OH, Ko, JM, Cho, TJ, Wright, NT, Jin, SW, Kang, HJ, Kim, HH, Choi, M
BLOOD, 202111