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Updated: Sep 9, 2025

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一个通过全外测序诊断的Baraitser-Winter脑前面综合征病例

Kenichi Suga1, Hiroki Sato2, Masashi Suzue2

  • 1Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan. aksuga@icloud.com.

Human genome variation
|September 3, 2025
PubMed
概括

在ACTB基因 (NM_001101.5:c.209C>T) 的新变异与轻度的Baraitser-Winter脑前面综合征有关. 这一发现表明这种罕见的遗传性疾病存在基因型-表型相关性.

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Although all next-generation methods use different technologies, they all share a set of standard features....
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