Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense variants in a population, elucidating previously unexpl...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2022-02-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-022-28330-8 |