Article

Reproductive and cognitive effects in carriers of recessive pathogenic variants

2024-10-01

Abstract excerpt

The genetic landscape of human Mendelian diseases is shaped by mutation and selection. Selection is mediated by phenotypic effects which interfere with health and reproductive success. Although selection on heterozygotes is well-established in autosomal dominant disorders, convincing evidence for selection in carriers of pathogenic variants associated with recessive conditions is limited, with only a few specific...

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Literature Corpus work: 0d81393a-2af1-5c5a-a214-bd16fb138ced
DOI: 10.1101/2024.09.30.615774

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