The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Author(s)
Fridman Hila
Yntema Helger G.
Mägi Reedik
Andreson Reidar
Metspalu Andres
Tyler-Smith Chris
Xue Yali
Carmi Shai
Levy-Lahad Ephrat
Gilissen Christian
Brunner Han G.
DOI
10.1016/j.ajhg.2021.03.004
Project(s)