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 Mezzavila, Chris Tyler-Smith, Yali Xue, Shai Carmi, Ephrat Levy-Lahad, Christian Gilissen*, Han G. Brunner*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

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Biochemistry, Genetics and Molecular Biology