Whole genome sequencing for novel neuromuscular disease gene discovery
收藏NIAID Data Ecosystem2026-03-11 收录
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https://www.omicsdi.org/dataset/ega/EGAS00001004535
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资源简介：
This peripheral neuropathy patient underwent whole genome sequencing to find the cause of their disease. They were undiagnosed by current standard-of-care practice, which is neurogenetic panel screening. This is a paediatric case.EGA study EGAS00001004535
创建时间：
2020-07-21
