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Updated: May 23, 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2,246个独特的ABCA4变种进行临床变种分类汇编,以澄清Stargardt疾病的变种致病性,使用修改的ACMG/AMP框架

Stéphanie S Cornelis1, Miriam Bauwens2,3, Lonneke Haer-Wigman1

  • 1Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.

Human mutation
|April 14, 2025
PubMed
概括

确定ABCA4基因变异的致病性是具有挑战性的. 这项研究利用广泛的数据重新分类了2,246种ABCA4变异,改善了对Stargardt病患者的诊断和遗传咨询.

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