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Updated: Jun 13, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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揭示混合表型中的二次突变:通过WES分析进行双重ERCC4和OTOA致病变体

Pinella Failla1, Lucia Saccuzzo2, Ornella Galesi1

  • 1Oasi Research Institute-IRCCS, via Conte Ruggero 73, 94018 Troina, Italy.

International journal of molecular sciences
|January 8, 2025
PubMed
概括

这项研究确定了兄弟姐妹智力障碍和听力损失的复杂遗传原因,涉及ERCC4和OTOA基因的新型变异. 对于精确的遗传诊断,对整个外体序列数据的全面分析至关重要.

关键词:
在ERCC4中,ERCC4提供了更多的信息.澳大利亚国际航空公司 (OTOA)混合的表型混合的表型.双重诊断是一种双重的诊断.运行同卵性性的一致性.整体外基因组测序的测序

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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells12:04

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