Article

An integrated deep mutational scanning approach provides clinical insights on<i>PTEN</i>genotype-phenotype relationships

2019-12-21

Abstract excerpt

Germline variation in PTEN results in variable clinical presentations, including benign and malignant neoplasia and neurodevelopmental disorders. Despite decades of research, it remains unclear how PTEN genotype is related to clinical outcomes. In this study, we combined two recent deep mutational scanning (DMS) datasets probing the effects of single-amino acid variation on enzyme activity and steady-state cellula...

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Literature Corpus work: f157548f-9d23-586e-a15a-0aebf9179515
DOI: 10.1101/2019.12.18.19015297

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