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Updated: Sep 18, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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在西班牙裔患者中Gitelman综合征的独特遗传呈现:病例报告

Aldo Arce1, Matthew Nguyen1, Dao Le1

  • 1Division of Nephrology, Hypertension, and Transplant Nephrology, University of California, Irvine, CA, USA.

SAGE open medical case reports
|June 23, 2025
PubMed
概括

基特曼综合征是一种遗传性脏疾病,源于SLC12A3基因的突变. 一种常见的c.179C>T变种,通常在亚洲人群中发现,在西班牙裔患者中被发现,扩大了其已知的人口范围.

关键词:
神经学 神经学 神经学

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