GenomicsCellPeer-reviewed
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
Tatsiana Aneichyk, William T. J. Hendriks, Rachita Yadav…·Michael E. Talkowski
This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.
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