Distinguishing between PTEN clinical phenotypes through mutation analysis

Distinguishing between PTEN clinical phenotypes through mutation analysis

Phosphate and tensin homolog on chromosome ten (PTEN) germline mutations are associated with an overarching condition known as PTEN hamartoma tumor syndrome. Clinical phenotypes associated with this syndrome range from macrocephaly and autism spectrum disorder to Cowden syndrome, which manifests as...

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Bibliographic Details
Main Authors: Stephanie Portelli, Lucy Barr, Alex G.C. de Sá, Douglas E.V. Pires, David B. Ascher
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Computational and Structural Biotechnology Journal
Subjects:
PTEN
PHTS
Genotype-phenotype correlations
Mutation analysis
Machine learning
Online Access:http://www.sciencedirect.com/science/article/pii/S2001037021002099

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http://www.sciencedirect.com/science/article/pii/S2001037021002099

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