NeuroscienceActa NeuropathologicaPeer-reviewed
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Elnaz Fazeli, Daniel D. Child, Stephanie A. Bucks…·Jessica E. Young
The paper identifies a pathogenic SORL1 variant, p.R953C, associated with Alzheimer's Disease and shows it impairs protein maturation and endosomal sorting.
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