Article

Multi-model functionalization of disease-associated <i>PTEN</i> missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

2019-10-10

Abstract excerpt

<h4>ABSTRACT</h4> Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its utility is dependent on appropriate assays to evaluate mutation impact on protein function. To fully assess the effects of 106 missense and nonsense variants of PTEN associated with autism spectrum disorder, somatic cancer and PHTS, we take a d...

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Literature Corpus work: 67d18f00-e644-5b8d-8e1a-7559a9a54aa3
DOI: 10.1101/800011

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