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Updated: Mar 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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一个新的ATXN7L3 De Novo变体是哈雷尔-托拉神经发育综合征 (HATONS) 的基础,并具有前轴多动性

Muhammad Umair1, Zaheer Ahmed2, Arif Mahmood3

  • 1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.

Clinical genetics
|February 27, 2026
PubMed
概括

研究人员在ATXN7L3基因中发现了一种新的遗传变异,导致哈雷尔-托拉神经发育综合征 (HATONS). 这一发现有助于了解疾病,并为受影响的家庭提供关键的遗传咨询.

关键词:
在ATXN7L3中使用.哈顿斯 哈顿斯 哈顿斯在新的 de novo.神经发育的神经发育这种新型变种是新奇的.他们是多角形的.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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