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评估ABCA4遗传变异:当前的景观和未来的前景

Senem Cevik1,2, Subhasis B Biswas1,2, Esther E Biswas-Fiss3,4

  • 1Department of Medical and Molecular Sciences, College of Health Sciences, University of Delaware, Newark, DE, USA.

Advances in experimental medicine and biology
|February 10, 2025
PubMed
概括

在ABCA4基因的遗传变异导致遗传性视网膜疾病. 本综述概述了评估众多ABCA4变异的病原性方法,这些变异对于临床决策和试验至关重要.

关键词:
在ABC运输器上,ABC运输器在ABCA4A4A4A4A4A4A4A4A4与ABCA4相关的视网膜病变功能性表征的表征.遗传变体的遗传变体遗传性视网膜退化 遗传性视网膜退化斯塔格尔特病是斯塔格尔特病的一种疾病.不确定意义的变种 (VUS)

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