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

Hila Fridman, Helger G. Yntema, Reedik Mägi, Reidar Andreson, Andres Metspalu, Massimo Mezzavilla, Chris Tyler‐Smith, Yali Xue, Shai Carmi, Ephrat Levy‐Lahad, Christian Gilissen, Han G. Brunner