Article

Interpreting the molecular mechanisms of disease variants in human transmembrane proteins

2022-07-13

Abstract excerpt

Next-generation sequencing of human genomes reveals millions of missense variants, some of which may lead to loss of protein function and ultimately disease. We here investigate missense variants in membrane proteins — key drivers in cell signaling and recognition. We find enrichment of pathogenic variants in the transmembrane region across 19,000 functionally classified variants in human membrane proteins. To acc...

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Literature Corpus work: 9df77f45-2253-5078-82b1-83be39363596
DOI: 10.1101/2022.07.12.499731

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