The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
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Authors
Fridman, Hila
IJntema, H.G.
Magi, Reedik
Andreson, Reidar
Metspalu, Andres
Mezzavila, Massimo
Gilissen, C.F.H.A. Christian
Brunner, H.G. Han