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The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN
0002-9297
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