Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary

被引：0
|
作者：
Shin, Jun Hee [1 ]
Lee, Sae-Mi [2 ,3 ]
Kim, Hyun Ho [1 ,4 ,5 ]
Kim, Jin Kyu [1 ,4 ,5 ]
机构：
[1] Jeonbuk Natl Univ, Dept Pediat, Sch Med, 20 Geonji Ro, Jeonju 54907, South Korea
[2] GC Labs, GC Genome, Yongin, South Korea
[3] Kangwon Natl Univ, Sch Med, Dept Lab Med, Chunchon, South Korea
[4] Jeonbuk Natl Univ, Res Inst Clin Med, Jeonju, South Korea
[5] Jeonbuk Natl Univ Hosp, Biomed Res Inst, Jeonju, South Korea
来源：
ANNALS OF LABORATORY MEDICINE | 2022年 / 42卷 / 04期
关键词：
PRIMARY CILIARY DYSKINESIA; JOINT CONSENSUS RECOMMENDATION; MEDICAL GENETICS; AMERICAN-COLLEGE; DIAGNOSIS; STANDARDS; AGE;
D O I：
10.3343/alm.2022.42.4.500
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：500 / 503
页数：4
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