Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis
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Chang Hoon Shin | Murim Choi | J. Ko | Y. Sohn | T. Cho | Suk-Won Jin | O. Kim | O. Kokhan | Jun-Dae Kim | N. Wright | C. Hong | Sangmoon Lee | Hyeon-ho Kim | C. H. Shin | Taekyeong Yoo | Jawon Lee | H. Kang | Ah-Ra Kim | H. Kang