基因检测需要NGS和Sanger方法

L. Jennings, D. Kirschmann
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引用次数: 2

摘要

来自EuroEPINOMICS罕见癫痫综合征工作组的研究人员对Sanger测序报告为SCN1A突变阴性的31个三人组进行了全外显子组测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Testing Requires NGS and Sanger Methodologies
Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
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