Improving Pompe diagnostics through modification of the ACMG-AMP variant classification criteria by the Clinical Genome Resources (ClinGen) Lysosomal Storage Diseases Variant Curation Expert Panel

被引：0
|
作者：
Rehder, Catherine [1 ]
Goldstein, Jennifer [2 ]
Bali, Deeksha [1 ]
机构：
[1] Duke Univ, Durham, NC USA
[2] Univ North Carolina Chapel Hill, Chapel Hill, NC USA
[3] Clin Genome Resource, Chapel Hill, NC USA
来源：
MOLECULAR GENETICS AND METABOLISM | 2019年 / 126卷 / 02期
关键词：
D O I：
10.1016/j.ymgme.2018.12.312
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
296
引用
收藏
页码：S122 / S122
页数：1
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