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pro vyhledávání: '"Boryeong Park"'
Autor:
Jae Sung Ko, Seong Dong Jeong, Young Bae Sohn, Che Ry Hong, Taekyeong Yoo, Hyeon Ho Kim, Murim Choi, Tae Joon Cho, Nathan T. Wright, Soo Jin Son, Ah-Ra Kim, Boryeong Park, Suk-Won Jin, Ok Hwa Kim, Jun-Dae Kim, Hyoung Jin Kang, Sangmoon Lee, Jung Min Ko, Jawon Lee, Oleksandr Kokhan, Je Kyung Seong, Chang Hoon Shin
Publikováno v:
Blood. 138(21)
Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7609db3794ad37d608ded003966eb1a7
https://pubmed.ncbi.nlm.nih.gov/34821936
https://pubmed.ncbi.nlm.nih.gov/34821936
