Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

Parkinsonism Relat Disord

Université de Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), 54000, Nancy, France; Service de neurologie, CHRU de Nancy, Nancy, France; Service de génétique clinique, CHRU de Nancy, Nancy, France. Electronic address:

Published: April 2023

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Source
http://dx.doi.org/10.1016/j.parkreldis.2023.105310DOI Listing

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