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

出版年份 2018 全文链接

标题

作者

关键词

PTEN, PTEN hamartoma tumor syndrome, autism spectrum disorder, deep mutation scanning, cancer, Cowden syndrome, genotype-phenotype, tumor suppressor, variants of uncertain significance, protein function

出版物

AMERICAN JOURNAL OF HUMAN GENETICS

Volume 102, Issue 5, Pages 943-955

出版商

Elsevier BV

发表日期

2018-04-26

DOI

10.1016/j.ajhg.2018.03.018

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