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Long‐Read Sequencing Resolves a Complex Structural Variant in <scp><i>PRKN</i></scp> Parkinson's Disease

33

Citations

27

References

2023

Year

Abstract

This is the first report describing a large 7 Mb inversion involving breakpoints outside of PRKN. This study highlights the importance of using long-read sequencing for structural variant analysis in unresolved young-onset PD cases. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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