African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Pilar Álvarez Jerez, Peter Wild Crea, Daniel M. Ramos…·Cornelis Blauwendraat
The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.