Genetic & Genomic MedicineBrainPeer-reviewed
Whole-exome sequencing in 16,511 individuals reveals a role of the HTRA1 protease and its substrate EGFL8 in brain white matter hyperintensities
Rainer Malik, Nathalie Beaufort, Simon Frerich…·Martin Dichgans
The paper identifies rare variants in HTRA1 and its substrate EGFL8 associated with increased white matter hyperintensities using whole-exome sequencing data from 16,511 UK Biobank individuals.
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