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Updated: Feb 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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现型变异与Jagunal同源1 (JAGN1) 缺陷相关,由c.63G>T变异引起的缺陷

Cristina-Loredana Pantea1,2, Mihaela Bataneant3,4, Cristian G Zimbru5

  • 1Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of ERN-ITHACA, 300011 Timisoara, Romania.

International journal of molecular sciences
|February 27, 2026
PubMed
概括

原同源1 (JAGN1) 缺陷是严重先天性中性衰竭 (SCN) 的遗传原因,具有广泛的临床特征. 像JAGN1 c.63G>T这样的变种显示出普遍有利的预后,特别是在创始人群中.

关键词:
缺少JAGN1的一个缺陷.遗传性中性质衰减是一种先天性中性质衰减.这是下一代测序.

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