Article

Lethal phenotypes in Mendelian disorders

2024-01-13

Abstract excerpt

Essential genes are those whose function is required for cell proliferation and/or organism survival. A gene’s intolerance to loss-of-function can be allocated within a spectrum, as opposed to being considered a binary feature, since this function might be essential at different stages of development, genetic backgrounds or other contexts. Existing resources that collect and characterise the essentiality status of...

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Literature Corpus work: 5b960021-161e-5ae0-9fdb-2420b4a48667
DOI: 10.1101/2024.01.12.24301168

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