The American Journal of Human Genetics
Volume 106, Issue 6, 4 June 2020, Pages 818-829
ArticleAn Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships
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Keywords
PTEN
PTEN hamartoma tumor syndrome
PHTS
autism spectrum disorder
ASD
autism
cancer
deep mutational scanning
genotype-phenotype
multiplex assay for variant effect
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