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Updated: Jan 8, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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由于生殖线和体质马赛克变异的PIK3CA相关表型:两例病例报告

Nazli Busra Acikgoz1, Damla Yildiz1, Gizem Urel-Demir1

  • 1Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

Molecular syndromology
|December 24, 2025
PubMed
概括

人体马赛克和生殖系PIK3CA变种可能导致罕见的过度生长条件. 本研究介绍了两名患有PIK3CA变异的患者,详细介绍了他们不同的临床过程和结果.

关键词:
案例报告案例报告外体序列的排序是如何进行的细菌系变体的细菌系变体过度生长 过度生长这就是PIK3CA.身体的马赛克主义.

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