Associated Papers
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle L et al.
American Journal of Human Genetics, 2016
Select a paper to view details