Article

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

2023-09-08

Abstract excerpt

Many dominant genetic disorders result from protein-altering mutations, acting primarily through dominant-negative (DN), gain-of-function (GOF), and loss-of-function (LOF) mechanisms. Deciphering the mechanisms by which dominant diseases exert their effects is often experimentally challenging and resource intensive, but is essential for developing appropriate therapeutic approaches. Diseases that arise via a LOF m...

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Literature Corpus work: fb8e05bf-6de6-5b20-b19d-1c60a6a640c1
DOI: 10.1101/2023.09.08.556798

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