Article

Rare genetic variants in dominant developmental disorder loci cause milder related phenotypes in the general population

2021-12-16

Abstract excerpt

<h4>ABSTRACT</h4> Many rare diseases are known to be caused by deleterious variants in Mendelian genes, however the same variants can also be found in people without the associated clinical phenotypes. The penetrance of these monogenic variants is generally unknown in the wider population, as they are typically identified in small clinical cohorts of affected individuals and families with highly penetrant variants...

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Literature Corpus work: f102295e-0bd3-5746-b6e3-852ed0ed6f9d
DOI: 10.1101/2021.12.15.21267855

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