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Article

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

26 Jun 2020

Abstract excerpt

Pathogenic variants in the gene encoding RAB39B resulting in loss of protein function lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, and while increased dosage of RAB39B was previously associated with cognitive impairment, the potential role of dosage alterations in Parkinson’s disease (PD) remains to be...

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PMID: 32670181
DOI: 10.3389/fneur.2020.00523

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