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Article

A global map of associations between types of protein posttranslational modifications and human genetic diseases

30 Jul 2021

Abstract excerpt

There are >200 types of protein posttranslational modifications (PTMs) described in eukaryotes, each with unique proteome coverage and functions. We hypothesized that some genetic diseases may be caused by the removal of a specific type of PTMs by genomic variants and the consequent deregulation of particular functions. We collected >320,000 human PTMs representing 59 types and crossed them with >4M nonsynonymous...

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PMID: 34430807
DOI: 10.1016/j.isci.2021.102917

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