Article

Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants

2023-12-14

Abstract excerpt

<title>Abstract</title> <p>Individuals with germline <italic>PTEN</italic> variants (PHTS) have increased risks of the seemingly disparate phenotypes of cancer and neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD). Etiology of the phenotypic variability remains elusive. Here, we hypothesized that decreased genomic diversity, manifested by increased homozygosity, may be one etiology. Com...

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Literature Corpus work: 0bdb3297-8f89-55f4-b2d5-a54cddfa2cf9
DOI: 10.21203/rs.3.rs-3734368/v1

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