Genetic & Genomic MedicinemedRxivPreprint
Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndrome
D. Liu, Charles John Billington, N. Raja…·Beth A. Kozel
The paper identifies novel non-synonymous variants associated with extreme vascular outcomes in Williams-Beuren syndrome through whole-genome sequencing and pathway analysis.
DOI 10.1101/2022.09.21.22280107