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Pathogenic Variant in the 5’-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia Cover

Pathogenic Variant in the 5’-Untranslated Region of GCH1 and Clinical Heterogeneity in a Chinese Family with Dopa-Responsive Dystonia

Open Access
|Jan 2025

References

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DOI: https://doi.org/10.5334/tohm.974 | Journal eISSN: 2160-8288
Language: English
Submitted on: Nov 13, 2024
Accepted on: Dec 25, 2024
Published on: Jan 7, 2025
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2025 Yanting Li, Mingqiang Li, Lanqing Liu, Qiying Sun, Guang Yang, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.