Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines

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作者：
Lang He
Wei Ye
Zhao Chen
Xinling Meng
Hong Jiang
机构：
[1] Central South University,Department of Neurology, Xiangya Hospital
[2] The Affiliated traditional Chinese Medical Hospital of Xinjiang Medical University,Department of Encephalopathy
[3] Central South University,National Clinical Research Center for Geriatric Diseases
[4] Central South University,Key Laboratory of Hunan Province in Neurodegenerative Disorders
[5] Central South University,Laboratory of Medical Genetics
来源：
Child's Nervous System | 2020年 / 36卷
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页码：1827 / 1830
页数：3
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