Related Experiment Video

Updated: Jan 6, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

Ana Westenberger1, Edgard Verdura2, Mandy Radefeldt3

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
|November 7, 2025
PubMed
Abstract

Keywords:
VPS16genetic variantsisolated dystoniasplice‐site variants

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