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Updated: Sep 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

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整体外体序列测定在患有结直肠多重症的患者中识别了新的致病性生殖系变异

Wellington Dos Santos1, Ariane S Pereira1,2, Thais Laureano1

  • 1Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos 14784-400, Brazil.

World journal of gastroenterology
|August 14, 2025
PubMed
概括

这项研究使用全外体序列测序来识别与APC和MUTYH变体负的患者中与多重症相关的新基因. 这些发现支持将多重症的基因查范围扩大到常见基因之外.

关键词:
结肠直肠癌是一种癌症.外体序列的排序是如何进行的这是一种家族性腺瘤多重症.遗传性结直肠癌是一种遗传性结直肠癌.多种类型的多种类型多种性倾向性基因多种性倾向性基因

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