Single-cell multimodal omics and directly reprogrammed neurons to probe reduced penetrance in Frontotemporal Dementia
K Natarajan, J Eisfeldt, M Hammond, K Patra… - bioRxiv, 2020 - biorxiv.org
We identified an individual with reduced penetrance (RedPenMC) associated with an
autosomal dominant progranulin (GRN) pathogenic variant (p. Tyr294*) causing …
autosomal dominant progranulin (GRN) pathogenic variant (p. Tyr294*) causing …