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Updated: Jul 28, 2025

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

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两种生殖系DICER1拼接变异的重新分类导致了DICER1综合征诊断

Maria Apellaniz-Ruiz1, Nelly Sabbaghian2, Anne-Laure Chong2

  • 1Genomics Medicine Unit, Navarrabiomed, Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), IdiSNA, Calle Irunlarrea 3, 31008, Pamplona, Navarra, Spain. mv.apellaniz.ruiz@navarra.es.

Familial cancer
|May 29, 2023
PubMed
概括

在两名患有罕见卵巢瘤和子的十几岁女孩中,DICER1综合征的诊断得到证实. 确定了影响拼接的新型内基变异,有助于诊断.

关键词:
这就是DICER1综合征.功能性表征的功能性表征多模块性肠炎 (Multinodular Goitre) 是一种严重的疾病.塞尔托利-莱迪格细胞瘤剪接的变种是剪接的变种.变体分类的变体分类

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