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Paper Details

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
Am J Hum Genet
26
2021
AR genetic disorder, autosomal-recessive (AR) genes, autosomal-recessive pathogenic variants, child, exome sequences, intellectual disabilities, recessive alleles, skeletal disorders
Author NameAffiliation
Reedik MägiInstitute of Genomics, University of Tartu
Andres MetspaluInstitute of Genomics, University of Tartu
Chris Tyler-SmithThe Wellcome Sanger Institute
Chris Tyler-SmithThe Wellcome Sanger Institute
Christian GilissenDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre
Han G BrunnerDepartment of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Centre, Maastricht University Medical Center
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