Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q.Hereditas. 2018 Sep 28;155:32. doi: 10.1186/s41065-018-0069-1.
发布时间：2023-09-22
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上一条： Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia. Wang H, Meng L, Li W, Du J, Tan Y, Gong F, Lu G, Lin G, Zhang Q.ClinChimActa. 2020 Mar;502:153-158. doi: 10.1016/j.cca.2019.12.021
下一条： Li DY, Yang XX, Tu CF, Wang WL, Meng LL, Lu GX, Tan YQ, Zhang QJ, Du J. Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans. Asian J Androl. 2021 Nov 5. doi: 10.4103/aja202154. Epub ahead of print. PMID: 34755699.