Article

Frequency and phenotype associations of rare variants in five monogenic cerebral small vessel disease genes in 200,000 UK Biobank participants with whole exome sequencing data

2021-11-17

Abstract excerpt

Based on previous case reports and disease-based cohorts, a minority of patients with cerebral small vessel disease (cSVD) have a monogenic cause, with many also manifesting extra-cerebral phenotypes. We investigated the frequency, penetrance, and phenotype associations of rare variants in cSVD genes in UK Biobank (UKB), a large population-based study. We used a systematic review of previous literature and ClinVar...

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Literature Corpus work: 8abb3350-0b0b-5d91-80ce-f34099e26684
DOI: 10.1101/2021.11.17.21266447

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