Article

Enigmatic missense mutations can cause disease via creation of <i>de novo</i> nuclear export signals

2024-04-24

Abstract excerpt

<h4>Summary</h4> Disease-causing missense mutations that occur within structurally and functionally unannotated protein regions can guide researchers to new mechanisms of protein regulation and dysfunction. Here, we report that the thrombocytopenia-, myelodysplastic syndromes-, and leukemia-associated P214L mutation in the transcriptional regulator ETV6 creates an XPO1-dependent nuclear export signal to cause pro...

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Literature Corpus work: 39fc2aa3-0a62-5b1c-8408-b0d36bf89ca3
DOI: 10.1101/2024.04.24.590854

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