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

H. Fridman, H.G. Yntema, R. Magi, R. Andreson, A. Metspalu, M. Mezzavila, C. Tyler-Smith, Y.L. Xue, S. Carmi, E. Levy-Lahad, C. Gilissen*, H.G. Brunner*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

7 Citations (Web of Science)
Original languageEnglish
Pages (from-to)608-619
Number of pages12
JournalAmerican Journal of Human Genetics
Volume108
Issue number4
DOIs
Publication statusPublished - 1 Apr 2021

Keywords

  • GENOME
  • MUTATIONS
  • GENETICS
  • GENES

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