A way forward for diagnosis of patients with extremely rare genetic mutations

被引：1
|
作者：
Crooke, Stanley T. [1 ]
Kim-McManus, Olivia S. [2 ]
Dalby, Kelley [3 ]
机构：
[1] n Lorem Fdn, Carlsbad, CA 92010 USA
[2] Univ Calif San Diego, Rady Childrens Hosp, Dept Neurosci, Div Pediat Neurol, La Jolla, CA USA
[3] Praxis Precis Med, Boston, MA USA
来源：
NATURE BIOTECHNOLOGY | 2023年 / 41卷 / 09期
关键词：
EPILEPSY; SCN2A;
D O I：
10.1038/s41587-023-01879-5
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
引用
收藏
页码：1190 / 1192
页数：3
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