Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman- Diamond syndrome.
Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Pak B, Son S, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, Cho TJ, Wright NT, Seong JK, Jin SW, Kang HJ, Kim HH, Choi M
Blood., 2021.06