A tandem duplication of exon 42 of the DMD gene is a likely benign variant

被引：0
|
作者：
Hayesmoore, Jesse B. G. [1 ]
Newbury-Ecob, Ruth [2 ]
Durell, Sarah [3 ]
Dillon, Amy [4 ]
Kanani, Farah [5 ]
Beecroft, Fiona [5 ]
Jarvis, Joanna [5 ]
Cilliers, Deirdre [6 ]
Fratter, Carl [1 ]
机构：
[1] Oxford Univ Hosp NHS Fdn Trust, Oxford Reg Genet Labs, Oxford, England
[2] Univ Hosp Bristol NHS Fdn Trust, Dept Clin Genet, Bristol, England
[3] Northampton Gen Hosp NHS Trust, Dept Clin Genet, Northampton, England
[4] Univ Hosp Southampton NHS Fdn Trust, Southampton, England
[5] Birmingham Womens & Childrens NHS Fdn Trust, Clin Genet Dept, Birmingham, England
[6] Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England
来源：
JOURNAL OF MEDICAL GENETICS | 2024年
关键词：
Genetic Testing; Genetic Variation; Neuromuscular Diseases;
D O I：
10.1136/jmg-2024-110159
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：3
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