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Article

An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.

American journal of human genetics - 4 Jun 2020

Mighell Taylor L, Thacker Stetson, Fombonne Eric, Eng Charis, O'Roak Brian J

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 the 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...

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Identifiers

PMID: 32442409
DOI: 10.1016/j.ajhg.2020.04.014
PMCID: PMC7273526

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