Article

A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotypes relationships

2018-01-29

Abstract excerpt

<h4>ABSTRACT</h4> Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the eff...

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Literature Corpus work: 1540b44c-32e0-51bd-9afa-6cab39cd1f8c
DOI: 10.1101/255265

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