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Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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对基因皮肤病的分子洞察:来自43名患者的遗传发现

Arzu Deniz Sama1, Enise Avci Durmusalioglu2, Esra Isik3

  • 1Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.

Archives of dermatological research
|March 2, 2025
PubMed
概括

下一代测序推进了遗传性皮肤疾病 (基因皮肤病) 的遗传诊断. 这项研究在43名患者中发现了新型变异,提高了罕见遗传性皮肤疾病的诊断准确性和个性化护理.

关键词:
皮肤溶解牛皮的牛皮质.遗传诊断是一种基因诊断.基因皮肤病的发生.这是下一代测序.眼皮皮肤性白化症是什么?整个外基因组的测序.

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