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Updated: Jul 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在威尔逊病中由NGS识别的ATP7B基因变异概况

Orhan Gorukmez1, Taner Özgür2, Ozlem Gorukmez1

  • 1Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey.

Fetal and pediatric pathology
|September 22, 2023
PubMed
概括

这项研究扩展了已知的威尔逊病 (WD) 的遗传变异,这是一个铜代谢障碍,揭示了患者之间的显著临床差异. 了解这些ATP7B基因突变对于准确的诊断和治疗至关重要.

关键词:
在ATP7B中,它是ATP7B.没有NGS,没有NGS.威尔逊病是威尔逊病的一种疾病.

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