NeuroscienceAlzheimer s & DementiaPeer-reviewed
Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.
Matthijs W. J. de Waal, Sven J. van der Lee, Melanie Lunding…·Henne H. Holstege
The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.
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