A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Published 2018 View Full Article

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Title
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships
Authors
Keywords
PTEN, PTEN hamartoma tumor syndrome, autism spectrum disorder, deep mutation scanning, cancer, Cowden syndrome, genotype-phenotype, tumor suppressor, variants of uncertain significance, protein function
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 102, Issue 5, Pages 943-955
Publisher
Elsevier BV
Online
2018-04-26
DOI
10.1016/j.ajhg.2018.03.018

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