Article

A global map of the impact of deletion of Post-Translational Modification sites in genetic diseases

2020-12-21

Abstract excerpt

<h4>Background</h4> There are >200 protein post-translational modification (PTMs) types described in eukaryotes, having diverse species conservation levels, proteome coverage, number of high-throughput experiments and functional roles. From a clinical perspective, a number of diseases have been associated to deregulated PTM sites and missense rare variants are globally enriched in PTMs. We hypothesize that some g...

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Literature Corpus work: 98a6b80a-652b-5c50-884a-716e102d6070
DOI: 10.1101/2020.12.20.423666

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