Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Haploinsufficiency.
Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders. J Thromb Haemost. 2021 01; 19(1):248-254.
Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 05; 581(7809):452-458.
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.