DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery

neurogenetics（2024）

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摘要

Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of 50

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关键词

THAP1,Dystonia,Expression,Fibroblasts,qPCR

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