Article

Identification of Genomic Rare Variants by Whole Genome Sequencing in Primary Torsion Dystonia

2020-05-22

Abstract excerpt

<h4>Background: </h4> Primary torsion dystonia (PTD) is a group of related movement disorders characterized by abnormal repetitive, twisting postures due to the involuntary co-contraction of opposing muscle groups. The research is based on whole genome sequencing technology of PTD patients to analyze the pathogenic genes and mutation sites in patients with primary dystonia, the relationship among genotype, clinica...

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Literature Corpus work: 172528bc-5f00-5692-a2e8-2724cad7e4b6
DOI: 10.21203/rs.3.rs-30384/v1

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