Associated Papers
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › PTEN
Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status.
Danielsen SA et al.
Human Mutation, 2008
Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
Boccone L et al.
American Journal of Medical Genetics. Part A, 2008
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
Agrawal S et al.
Human Molecular Genetics, 2005
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