Article

Redefining the <i>PTEN</i> Promoter: Identification of Two Upstream Transcription Start Regions

2021-04-23

Abstract excerpt

<h4>ABSTRACT</h4> Germline mutation of PTEN is causally observed in Cowden syndrome (CS) and is one of the most common genetic causes of autism spectrum disorder (ASD). However, the majority of individuals who present with CS-like clinical features are found to be PTEN- mutation negative. Reassessment of PTEN promoter regulation may help explain abnormal PTEN dosage, as only the minimal promoter and coding re...

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Literature Corpus work: 6daa32f6-1306-5440-9682-a0a505927227
DOI: 10.1101/2021.04.23.441162

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