Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Developmental Disabilities.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. Am J Hum Genet. 2021 06 03; 108(6):1083-1094.
Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
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