Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival
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DOI: 10.1002/mdc3.70152
Abstract: a loss-of-function effect. Both variants have therefore been reclassi fi ed as likely pathogenic. Thus, the two siblings had a VAC14 -related neurodegeneration manifested by early motor and language regression with progressive spastic tetraparesis, and… read more here.
Keywords: novel vac14; vac14 variants; variants identified; striatonigral degeneration ... See more keywords