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RNA测序和目标长读测序揭示了一个内基转位子插入,导致异常拼接

Ryota Kawakami1, Takuya Hiraide1, Kazuki Watanabe2

  • 1Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Journal of human genetics
|December 15, 2023
PubMed
概括

对罕见疾病的遗传分析往往仍未得到解决. 长读测序与RNA测序相结合,发现了一个复杂的插入,导致过早染色体分离综合征.

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