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Che R Hong
Che R Hong
Seoul National University
Chromosome 15
Genetics
Ribosomopathy
Uniparental disomy
Biology
2
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2
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0
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Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
2021
bioRxiv
Sangmoon Lee
Chang H Shin
Jawon Lee
Seong D Jeong
Che R Hong
Jun-Dae Kim
Ah-Ra Kim
Soo Jin Son
Oleksandr Kokhan
Taekyeong Yoo
Jae S. Ko
Young Bae Sohn
Ok Hwa Kim
Jung M Ko
Tae-Joon Cho
Nathan T. Wright
Je K. Seong
Suk-Won Jin
Hyoung Jin Kang
Hyeon Ho Kim
Murim Choi
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Citations (1)
Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis
2018
bioRxiv
Sangmoon Lee
Chang H Shin
Che R Hong
Jun-Dae Kim
Ah-Ra Kim
Jawon Lee
Oleksandr Kokhan
Taekyeong Yoo
Young Bae Sohn
Ok Hwa Kim
Jung M Ko
Tae-Joon Cho
Nathan T. Wright
Suk-Won Jin
Hyoung Jin Kang
Hyeon Ho Kim
Murim Choi
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Citations (1)
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