Identification of a Novel RPS7 Non-Coding Variant in a Rare Form of Diamond-Blackfan Anemia by Whole-Genome Sequencing

被引:0
|
作者
Wen, T. [1 ]
Bayrak-Toydemir, P. [1 ]
Wen, T. [1 ]
Meznarich, J. [1 ]
Botto, L. [1 ]
Baldwin, E. [1 ]
Andrews, A. [1 ]
Vagher, J. [1 ]
Boyden, S. [1 ]
Nicholas, T. [1 ]
Chapin, A. [2 ]
Fan, E. [1 ]
Mao, R. [1 ]
Bayrak-Toydemir, P. [1 ]
机构
[1] Univ Utah, Salt Lake City, UT USA
[2] ARUP Labs, Salt Lake City, UT USA
来源
JOURNAL OF MOLECULAR DIAGNOSTICS | 2023年 / 25卷 / 11期
关键词
D O I
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中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
G056
引用
收藏
页码:S19 / S19
页数:1
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